Journal articles: 'Congenital anomalies metabolism'

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Mazahir, Fatima Ali, and Manal Mustafa Khadora. "A retrospective analysis of congenital anomalies in congenital hypothyroidism." Journal of Pediatric Endocrinology and Metabolism 33, no. 9 (September 25, 2020): 1147–53. http://dx.doi.org/10.1515/jpem-2020-0250.

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AbstractObjectivesWe evaluated the spectrum of diseases accompanying congenital hypothyroidism (CH) in the United Arab Emirates and compared them with internationally studied patterns.MethodsThe presented retrospective cross-sectional study took place in two government tertiary care centres. In total, 204 patients with a confirmed diagnosis of CH and a minimum period of follow-up of 1 year were included. Patients with Down syndrome, infants born at <35 weeks of gestation, and babies with TORCH (Toxoplasma gondii, Other viruses [HIV, measles, etc.], Rubella, Cytomegalovirus, and Herpes simplex) infections were subsequently excluded from the study.ResultsOf the subjects with CH, 39% had associated extrathyroidal anomalies (ETAs); among these, 25% had a single anomaly. A significant proportion of Arab males were affected by CH as compared to other ethnic groups. Dyshormonogenesis was the commonest aetiological cause (55%) of CH. Males with an ectopic lingual thyroid gland had significant ETAs as compared to females of the same cohort. The most common ETAs were congenital heart disease (16%), followed by urogenital tract anomalies (14%).ConclusionsDetection of a high rate and variability of ETAs associated with CH necessitates the formulation of a structured screening programme including appropriate clinical, laboratory, and imaging tools to detect ETAs at an earlier stage.

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Dude, Annie M., Nevert Badreldin, Amanda Schieler, and Lynn M. Yee. "Periconception glycemic control and congenital anomalies in women with pregestational diabetes." BMJ Open Diabetes Research & Care 9, no. 1 (April 2021): e001966. http://dx.doi.org/10.1136/bmjdrc-2020-001966.

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IntroductionTo assess the relationship between periconception glycemic control and congenital anomalies in a contemporary, diverse population of women with pregestational diabetes.Research design and methodsThis is a retrospective cohort study of all pregnant women with pregestational diabetes at a single institution (2003–2017) in the USA. The primary outcome was frequency of major or minor congenital anomalies. Glycemic control was assessed by periconception glycosylated hemoglobin (HbA1c). The association of periconception HbA1c with pregnancy outcomes was assessed using bivariable and multivariable analyses.ResultsOur sample included 351 women, of which 63.8% had type 2 diabetes. Our study cohort is racially and ethnically diverse, with approximately equal numbers of women identifying as white non-Hispanic, black non-Hispanic and Hispanic, with 3.4% identifying as Asian. Of these 351 women, 52 (14.8%) had a fetus with a congenital anomaly, of whom the majority (n=43) had a major anomaly. Over half (51.1%) of all major anomalies were cardiovascular. Compared with the group with the best glycemic control (HbA1c ≤7.4%), which had an anomaly frequency of 10.2%, the frequency of congenital anomalies increased significantly with each category of worsening glycemic control (HbA1c 7.5%–9.4%: 20.6%, adjusted OR (aOR) 2.35, 95% confidence interval (CI) 1.08 to 5.13; HbA1c 9.5% to 11.4%: 25.8%, aOR 2.86, 95% CI 1.08 to 7.59; HbA1c ≥11.5%: 37.5%, aOR 7.66, 95% CI 2.27 to 25.9).ConclusionIn a diverse cohort of women with pregestational diabetes, higher periconception HbA1c, especially HbA1c >9.5, was significantly associated with major congenital fetal anomalies. Our study sample is reflective of the current population of pregnant women with diabetes, including women with type 2 diabetes and from racial and ethnic minorities.

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Koch, Linda. "Maternal weight linked to congenital anomalies in offspring." Nature Reviews Endocrinology 6, no. 8 (August 2010): 418. http://dx.doi.org/10.1038/nrendo.2010.102.

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Dodd, Jodie M., and Clare L. Whitehead. "Maternal obesity and congenital anomalies — risk and diagnosis." Nature Reviews Endocrinology 13, no. 9 (August 4, 2017): 504–6. http://dx.doi.org/10.1038/nrendo.2017.100.

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Mafruchati, Maslichah, Mas’ud Harijadi, Widjiati Widjiati, and Boerhan Hidayat. "The Potency of ∆F 508-T Gen Mutant the Coding of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) As Prototype at the Congenital Bilateral Absence of Vas Deferens (CBAVD) Disease in Indonesia." KnE Life Sciences 3, no. 6 (December 3, 2017): 139. http://dx.doi.org/10.18502/kls.v3i6.1123.

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Birth defect (congenital defect / congenital condition) is an anomaly appearing at birth and able to cause the physical or mental defect or death. Birth defect generally can be detected during the prenatal period. However, if this cannot be detected during the prenatal period, it can be identified at the post natal examination. Congenital Bilateral Absence Vas Difference (CBAVD) is of one the congenital defects characterized by Azoospermia causing the occurrence of infertility. This congenital defect can bring impact to the structural, functional and metabolism anomalies. Approximately 7.9 million children in the world (about 6% of the whole anomalies in the world) were born with serious congenital defects every year due to genetic anomaly or other post-conception. The determination of optimal output from PCR optimization to obtain the location of ∆F 508-T mutant on CBAVD patients in Indonesia is conducted pursuant to the gene target. The conclution were influence of various factors as the indicator specifying the mutation of ∆F 508-T mutant needs to be considered in making a decision for the preliminary research on CBAVD in Indonesia.

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Al-Juraibah, Fahad, Angela Lucas-Herald, Rachael Nixon, Christine Toka, Cunyi Wang, Martyn Flett, Stuart O'Toole, and S. Faisal Ahmed. "Association Between Extra-Genital Congenital Anomalies and Hypospadias Outcome." Sexual Development 13, no. 2 (2019): 67–73. http://dx.doi.org/10.1159/000497260.

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Diamond, Michael P., Sheron L. Salyer, Frank H. Boehm, and William K. Vaughn. "Congenital Anomalies in Offspring of Insulin-Dependent Diabetic Mothers." Diabetes Educator 12, no. 3 (June 1986): 272–76. http://dx.doi.org/10.1177/014572178601200305.

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Borsari, Lucia, Carlotta Malagoli, Martha M. Werler, Kenneth J. Rothman, Marcella Malavolti, Rossella Rodolfi, Gianfranco De Girolamo, Fausto Nicolini, and Marco Vinceti. "Joint Effect of Maternal Tobacco Smoking and Pregestational Diabetes on Preterm Births and Congenital Anomalies: A Population-Based Study in Northern Italy." Journal of Diabetes Research 2018 (June 28, 2018): 1–7. http://dx.doi.org/10.1155/2018/2782741.

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Smoking and pregestational diabetes (PGD) are recognized risk factors for adverse pregnancy outcomes, but to date, no population-based study has investigated their joint effects. Using hospital discharges, we identified all women with PGD delivering in Emilia-Romagna region during 2007–2010 matched 1 : 5 with parturients without diabetes. Our study endpoints were preterm births and congenital anomalies. We measured interaction between PGD and maternal smoking, by calculating excess prevalence and prevalence ratio due to interaction, relative excess risk due to interaction (RERI), attributable proportion (AP), and the synergy index (S). Analyses were performed in the overall study population and in the subgroup whose PGD was validated through diabetes registers. The study included 992 women with PGD (10.5% smokers) and 4788 comparison women (11.9% smokers). The effects of PGD and maternal tobacco smoking were greater than additive for both preterm birth (excess prevalence due to interaction = 11.7%, excess ratio due to interaction = 1.5, RERI = 2.39, AP = 0.51, S = 2.82) and congenital anomalies (excess prevalence due to interaction = 2.2%, excess ratio due to interaction = 1.3, RERI = 1.33, AP = 0.49, S = 5.03). Joint effect on both endpoints was confirmed in the subgroup whose PGD status was validated. In conclusion, we found that maternal tobacco smoking and PGD intensify each other’s effect on preterm birth and congenital anomalies.

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Cohen, Arnold, and Geeta Chhibber. "Obstetric Complications of Congenital Anomalies of the Paramesonephric Ducts." Seminars in Reproductive Medicine 4, no. 01 (February 1986): 59–65. http://dx.doi.org/10.1055/s-2007-1022485.

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El Kholy, Mohamed, Marwa E. Fahmi, Ayman E. Nassar, Samia Selim, and Heba H. Elsedfy. "Prevalence of Minor Musculoskeletal Anomalies in Children with Congenital Hypothyroidism." Hormone Research in Paediatrics 68, no. 6 (2007): 272–75. http://dx.doi.org/10.1159/000104175.

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Noumoff, Joel, Susan Heyner, and Martin Farber. "The Malignant Potential of Congenital Anomalies of the Paramesonephric Ducts." Seminars in Reproductive Medicine 4, no. 01 (February 1986): 67–73. http://dx.doi.org/10.1055/s-2007-1022486.

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Vaarasmaki, M., M. Gissler, A. Ritvanen, and A. L. Hartikainen. "Congenital anomalies and first life year surveillance in Type 1 diabetic births." Diabetic Medicine 19, no. 7 (July 2002): 589–93. http://dx.doi.org/10.1046/j.1464-5491.2002.00756.x.

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Sokolov, P. I., N. V. Chebanenko, V. P. Zykov, I. V. Kanivets, A. G. Prityko, and P. A. Romanov. "Congenital cerebral palsy: genetic cause and nosological integrity." Russian Journal of Child Neurology 15, no. 3-4 (February 26, 2021): 65–77. http://dx.doi.org/10.17650/2073-8803-2020-15-3-4-65-77.

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The review provides an analysis of 73 full-text articles, the source of which was the Medline, OMIM, NCBI, Pubmed, Scopus, eLibrary.ru databases. The data of studies of the main pathogenetic mechanisms of the formation of the cerebral palsy (CP) phenotype, such as chromosomal aberrations, copy number variations, single nucleotide polymorphisms, associated with the development of the CP phenotype, are reviewed and analyzed. Epigenetic effects on the genome, as well as the effects of the genome on the mechanisms of epigenomic regulation, are examined in detail. The data on the genetic determinism of concomitant pathology and reactivity to therapeutic tactics are presented. Based on the study of data from numerous studies, the authors draw the following conclusions:1) the pathogenesis of the phenotype of CP includes a large number of genes that determine violations of cellular metabolism, neuroontogenesis, brain resistance to hypoxia, etc;2) genes whose abnormalities form a syndromic pathology are involved in the pathogenesis of CP;3) the multidirectionality and breadth of the effects of the gene pool with the outcome in a syndrome-specific distinctive picture of the CP allows us to propose the concept of a neurotropic genome;4) the mechanisms of gene involvement can vary from aberrations to epigenetic imbalances;5) different groups of genes can differentially influence the formation of individual syndromes in the phenotype of CP;6) there are data indicating a genetic determinism of the tendency to contracture, pharmacoreactivity to drugs that reduce muscle tone, reactivity to habilitation effects;7) genomic-epigenomic interactions normally ensure the body’s adaptation to environmental conditions, and with pathology, they increase the likelihood of regulatory breakdowns that lead to the formation of a CP phenotype;8) the exclusion from the diagnosis of CP of genetically determined cases of phenotype development is incorrect.The authors present two anthropogenic reasons for the increase in the frequency of occurrence of de novo identified gene abnormalities:1) anthropogenic impact on the environment, increasing the number of anomalies of the genome de novo; 2) iatrogenic effects of technologies for preserving life, vitality and reproductive ability of carriers of genomic anomalies. This effect leads to the fixation of anomalies in the genome of the population.A paradox is formulated, according to which, in the presence of technologies capable of preserving the life of carriers of genomic anomalies, in vivo technologies for genome correction are only just beginning to be put into practice. Based on this, it is concluded that it is necessary to intensify the development of methods for prenatal diagnosis and gene therapy of CP.

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Leger, J. "Thyroid Developmental Anomalies in First Degree Relatives of Children with Congenital Hypothyroidism." Journal of Clinical Endocrinology & Metabolism 87, no. 2 (February 1, 2002): 575–80. http://dx.doi.org/10.1210/jc.87.2.575.

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Sayin Kocakap, Beyza D., Cihat Sanli, Feryal Cabuk, Murat Koc, and Ali Kutsal. "Association of MTHFR A1298C polymorphism with conotruncal heart disease." Cardiology in the Young 25, no. 7 (December 30, 2014): 1326–31. http://dx.doi.org/10.1017/s1047951114002467.

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AbstractCongenital heart diseases are common congenital anomalies with 1% prevalence worldwide and are associated with significant childhood morbidity and mortality. Among a wide range of aetiologically heterogeneous conditions, conotruncal anomalies account for approximately one-third of all congenital heart defects. The aetiology of conotruncal heart diseases is complex, with both environmental and genetic causes. Hyperhomocysteinaemia, which is often accompanied by the defects of folic acid metabolism, is known to cause conotruncal heart anomalies. In this study, we have evaluated three polymorphisms in the following two hyperhomocysteinaemia-related genes: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and nicotinamide N-methyl transferase (NNMT rs694539) in 79 children with conotruncal heart disease and 99 children without conotruncal heart disease. Genotype distribution of the MTHFR A1298C polymorphism showed a statistically significant difference between the two groups. In the case group, AC and CC genotypes were higher than the control group (p<0.05). We have found that MTHFR A1298C polymorphism is associated with conotruncal heart disease; C allele (p=0.028), AC (OR[95% CI]=2.48[1.24–4.95], p=0.010), CC (OR[95% CI]=3.01[1.16–7.83], p=0.023), and AC+CC (OR[95% CI]=2.60[1.36–4.99], p=0.004) genotypes are more frequent in the patient group. Genotype distributions of the MTHFR C677T and NNMT rs694539 polymorphisms were similar in the two groups when evaluated separately and also according to the dominant genetic model (p>0.05). Our results suggest that MTHFR 1298C allele is a risk factor for conotruncal heart disease.

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Mone, Suzanne M., Matthew W. Gillman, Tracie L. Miller, Eugene H. Herman, and Steven E. Lipshultz. "Effects of Environmental Exposures on the Cardiovascular System: Prenatal Period Through Adolescence." Pediatrics 113, Supplement_3 (April 1, 2004): 1058–69. http://dx.doi.org/10.1542/peds.113.s3.1058.

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Exposures to drugs, chemical and biological agents, therapeutic radiation, and other factors before and after birth can lead to pediatric or adult cardiovascular anomalies. Furthermore, nutritional deficiencies in the perinatal period can cause cardiovascular anomalies. These anomalies may affect heart structure, the conduction system, the myocardium, blood pressure, or cholesterol metabolism. Developmental periods before and after birth are associated with different types of risks. The embryonic period is the critical window of vulnerability for congenital malformations. The fetal period seems to have lifelong effects on coronary heart disease and its precursors. During the weeks immediately after birth, susceptibility to myocardial damage seems to be high. Exposure to cancer chemotherapy or radiotherapy in childhood raises the risk of long-term progressive left ventricular dysfunction and other cardiovascular problems. In childhood and adolescence, use of recreational drugs such as cocaine and tobacco poses cardiovascular dangers as well. Where evidence about environmental exposures is limited, we have included models of disease and other exposures that are suggestive of the potential impact of environmental exposures.

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Yaplito-Lee, J., J. Pitt, J. Meijer, L. Zoetekouw, R. Meinsma, and A. B. P. van Kuilenburg. "β-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems." Molecular Genetics and Metabolism 93, no. 2 (February 2008): 190–94. http://dx.doi.org/10.1016/j.ymgme.2007.09.009.

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Al Jabri, Aida, Nusaybah Al Naim, and Abeer Al Dossari. "Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia." Case Reports in Endocrinology 2021 (July 16, 2021): 1–4. http://dx.doi.org/10.1155/2021/6686312.

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Fanconi anemia (FA) is a rare autosomal recessive inherited disease caused by gene mutations that are primarily involved in the response to or repair of DNA damage. FA characterizes by multiple congenital abnormalities and malformations including growth retardation, renal agenesis, absence of radial bones and thumbs as well, progressive bone marrow failure, irregular skin pigmentation patterns, and increased susceptibility to cancer. FANCD2 gene mutation is believed to be one of the causative mutations in Fanconi anemia, and despite many case reports that link the FANC gene mutation to multiple congenital anomalies and disease, there is no case report found to link it with genitalia abnormalities. In our paper, we report a male Saudi infant who presented to the endocrine clinic at the age of 9 months with severe ambiguous genitalia and found that he carries a homozygous variant mutation in the FANCD2 gene and we face a challenge to treat this patient since there was no previous similar case.

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Wasikowa, R., and A. Skalska. "P80 Congenital anomalies in newborns of mothers with diabetes type 1 and gestational diabetes." Diabetes Research and Clinical Practice 44 (April 1999): S40. http://dx.doi.org/10.1016/s0168-8227(99)90102-x.

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Soeradi, Oentoeng, and M. K. Tadjudin. "Congenital anomalies in the offspring of rats after exposure of the testis to an electrostatic field." International Journal of Andrology 9, no. 2 (April 1986): 152–60. http://dx.doi.org/10.1111/j.1365-2605.1986.tb00878.x.

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Walker, Austin, Xianfu Wang, Young Mi Kim, Xianglan Lu, Shibo Li, and Hui Pang. "Characterization of partial trisomy chromosome 11q in a patient with congenital anomalies and literature review." Molecular Genetics and Metabolism 132 (April 2021): S117. http://dx.doi.org/10.1016/s1096-7192(21)00264-x.

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Savasta, S., P. Merli, F. Introzzi, L. Strocchio, G. Lanati, G. Incorpora, E. Della Mina, A. Simoncelli, O. Zuffardi, and D. Larizza. "Agenesis of Internal Carotid Artery and Hypopituitarism: Case Report and Review of Literature." Journal of Clinical Endocrinology & Metabolism 97, no. 10 (October 1, 2012): 3414–20. http://dx.doi.org/10.1210/jc.2011-3389.

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Abstract Context: Agenesis of the internal carotid artery and hypoplasia of the internal carotid artery are rare congenital abnormalities, involving less than 0.01% of the general population. Congenital hypopituitarism is also a rare condition; thus, the association of the two entities is unlikely to be casual. We describe one pediatric case of agenesis of the internal carotid artery with hypopituitarism and review other known cases. Evidence Acquisition and Synthesis: In this brief clinical case seminar, we summarize the current understanding of this association based on a MEDLINE search of all peer-reviewed publications (original articles and reviews) on this topic between 1980 and 2011. We found nine other cases, mainly diagnosed during childhood. Defects of pituitary function varied among cases; in four, midline anomalies were present. Conclusion: There are two theories that are not mutually exclusive to explain the association of congenital vascular malformation and pituitary hypoplasia with hypopituitarism: the first involves hemodynamic mechanisms, and the second, complex neural-crest differentiation and/or migration disorders. Whatever the real physiopathological mechanism responsible for this condition, it could be considered as a new clinical entity.

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Wu, Yuxiao, Buyun Liu, Yangbo Sun, Yang Du, Mark K. Santillan, Donna A. Santillan, Linda G. Snetselaar, and Wei Bao. "Association of Maternal Prepregnancy Diabetes and Gestational Diabetes Mellitus With Congenital Anomalies of the Newborn." Diabetes Care 43, no. 12 (October 21, 2020): 2983–90. http://dx.doi.org/10.2337/dc20-0261.

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Gopal, Girish. "A study of clinical, metabolic and hematological profile in infants of diabetic mothers." Indian Journal of Pharmaceutical and Biological Research 2, no. 02 (June 30, 2014): 34–40. http://dx.doi.org/10.30750/ijpbr.2.2.7.

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Background:Diabetes has long been associated with maternal and perinatal mobidity and mortality. Infants of diabetic mothers (IDMs) have higher risks for serious problems during pregnancy, delivery and early neonatal period. Abnormal fetal metabolism during pregnancy which is complicated by maternal diabetes mellitus results in multiple neonatal sequelae. Objective: To study the clinical, metabolic and hematological profile in infants of diabetic mothers and to compare the neonatal outcome in gestational and pregestational (overt) diabetic mothers. Methods: 69 neonates born to diabetic mothers were enrolled in the study. Gestational age, birth weight, relevant perinatal history and examination findings were recorded. Blood samples were collected to perform relevant biochemical tests and managed as per unit protocol. Echocardiography and ultrasound abdomen was done routinely in all neonates. Results: Of the 69 neonates, 71.01% (49/69) were born to mothers with gestational diabetes mellitus (GDM), while the remaining 28.99% (20/69) were born to mothers with pregestational (overt) diabetes mellitus (PGDM). 53.63% (37/69) of mothers had poor glycemic control. Most of the neonates (73.91% - 51/69) were delivered by cesarean section. 88.40% (61/69) of the babies were born at term. Majority of them (85.50% - 59/69) were appropriate for gestational age with mean birth weight of 3.06±0.82kgs. Hypoglycemia was the most common metabolic abnormality seen in 73.91% (51/69) of neonates. Polycythemia was seen in 60.80% (42/69) of neonates. Congenital malformations were seen in 17.40% (12/69) of neonates, of which most of them had congenital heart disease. 11.60% (8/69) of the babies had suffered birth injuries. 5.80% (4/69) of neonates died in the early neonatal period. Occurrence of hypoglycemia, polycythemia, hyperbilirubinemia, congenital anomalies and birth injuries were significantly higher in infants born to mothers with GDM, whereas hypocalcemia and hypomagnesemia were significantly higher in infants of mothers with PGDM. Conclusions: Among the pregnancies complicated by diabetes, GDM continues to have a major contribution. Hypoglycemia and polycythemia remain the most common biochemical and hematological abnormality respectively. Congenital heart disease forms a major proportion of the congenital anomalies seen in IDMs. Mortality rate is higher in infants born to mothers with GDM.

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Mony, Sadia Afrin, Tanuka Barua, and Md Badruddoza. "Caudal Regression Syndrome : A Case Report." Chattagram Maa-O-Shishu Hospital Medical College Journal 15, no. 2 (March 6, 2017): 57–60. http://dx.doi.org/10.3329/cmoshmcj.v15i2.31808.

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Caudal Regression Syndrome (CRS) is a spectrum of congenital malformations, which consist of anomalies of the rectum, the urinary and genital systems, the lumbosacral spine, and the lower limbs. Though exact cause that leads to caudal regression syndrome is still unknown but it is believed that genetic influence as well as maternal pathologic factor related to carbohydrate metabolism plays an important role. The severity of morphologic disorder depends on residual spinal cord function. Infant may present with mild to severe neurological involvement with or without visceral anomaly. Here, we report a case of caudal regression syndrome in an 18 months old girl and presented with hypoplastic lower limb and bladder incontinence.Chatt Maa Shi Hosp Med Coll J; Vol.15 (2); Jul 2016; Page 57-60

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Rudland, Victoria L., Jason Pinner, and Glynis P. Ross. "Congenital Anomalies in Offspring of Maternal Glucokinase–Maturity-Onset Diabetes of the Young: A Case Report." Diabetes Care 42, no. 10 (August 15, 2019): e162-e163. http://dx.doi.org/10.2337/dc19-0930.

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Kahle, Juliette, Prapti Singh, Alexander Wein, Kayla Quirin, Yang Cao, and Jorge Luis Granadillo De Luque. "WNT5A haploinsufficiency and gestational diabetes in a newborn with multiple congenital anomalies: a likely gene-environment interaction." Molecular Genetics and Metabolism 132 (April 2021): S278—S279. http://dx.doi.org/10.1016/s1096-7192(21)00512-6.

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Andreeva, Elena N., Yulia S. Absatarova, Ekaterina V. Sheremetyeva, and Valentina A. Fursenko. "Obesity and reproductive function of women: epigenetic and somato-psychological features." Obesity and metabolism 16, no. 2 (September 16, 2019): 9–15. http://dx.doi.org/10.14341/omet10113.

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The review article presents data on the effects of obesity on the female reproductive system and offspring of mothers with overweight or obesity, such as infertility, miscarriages, premature birth, stillbirth, congenital anomalies and prematurity, as well as a high risk of cesarean section. Obesity accompanies polycystic ovary syndrome, worsening the metabolic profile and increasing the risk of developing depression and eating disorders. Maternal obesity and hyperglycemia are able to influence the formation of the fetus by epigenetic mechanisms without affecting the nucleotide sequences. Subsequently, the metabolic and cardiovascular risks increase in the descendants of obese or overweight mothers and gestational diabetes. Patients with obesity are characterized by a folic acid deficiency and a deficiency of the luteal phase. Exogenous administration of these substances improves pregnancy outcomes and prevents congenital malformations.

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Zangen, Sarah W., Pirhiya Yaffe, Svetlana Shechtman, David H. Zangen, and Asher Ornoy. "The Role of Reactive Oxygen Species in Diabetes-Induced Anomalies in Embryos of Cohen Diabetic Rats." International Journal of Experimental Diabetes Research 3, no. 4 (2002): 247–55. http://dx.doi.org/10.1080/15604280214933.

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The role of the antioxidant defense mechanism in diabetesinduced anomalies was studied in the Cohen diabetes-sensitive (CDs) and -resistant (CDr) rats, a genetic model of nutritionally induced type 2 diabetes mellitus. Embryos, 12.5-day-old, of CDs and CDr rats fed regular diet (RD) or a diabetogenic high-sucrose diet (HSD) were monitored for growth retardation and congenital anomalies. Activity of superoxide dismutase (SOD) and catalaselike enzymes and levels of ascorbic acid (AA), uric acid (UA), and dehydroascorbic acid (DHAA) were measured in embryonic homogenates. When fed RD, CDs rats had a decreased rate of pregnancy, and an increased embryonic resorption. CDs embryos were smaller than CDr embryos; 46% were maldeveloped and 7% exhibited neural tube defects (NTDs). When fed HSD, rate of pregnancy was reduced, resorption rate was greatly increased (56%;P< .001), 47.6% of the embryos were retrieved without heart beats, and 27% exhibited NTD. In contrast, all the CDr embryos were normal when fed RD or HSD. Activity of SOD and catalase was not different in embryos of CDs and CDr rats fedRD. When fed HSD, levels of AA were significantly reduced, the ratio DHAA/AA was significantly increased, and SOD activity was not sufficiently increased when compared to embryos of CDr. The reduced fertility of the CDs rats, the growth retardation, and NTD seem to be genetically determined. Maternal hyperglycemia seems to result in environmentally induced embryonic oxidative stress, resulting in further embryonic damage.

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Tikhonovich, Yu V., L. G. Chernich, I. N. Velikanov, V. M. Polyakova, E. V. Vasilyev, V. M. Petrov, E. V. Shreder, Е. V. Glavatskich, and A. N. Tyulpakov. "Novel GLIS3 mutation in patient with neonatal diabetes mellitus and congenital hypothyroidism (NDH-syndrome)." Diabetes mellitus 25, no. 1 (March 23, 2022): 81–88. http://dx.doi.org/10.14341/dm12826.

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Mutations in the GLIS3 gene encoding the GLIS3 transcription factor are cause of a rare syndromic form of neonatal diabetes mellitus (NDM) with congenital hypothyroidism. Additional features include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and other anomalies. This disease in foreign literature is called NDH-syndrome (Neonatal diabetes and Hypothyroidism syndrome).We present the description of a patient with this syndrome with novel homozygous GLIS3 mutation.Our patient is a female, who was born with a weight of 1680 gr, length of 44 cm to consanguineous parents. She developed diabetes on 2 day after birth, requiring continuous intravenous insulin. On day 5 of life hypothyroidism was identified. Thyroid anatomy was normal on ultrasound scan. NDH syndrome was suspected.Genetic analysis revealed a novel homozygous mutation c.1836delT, p.Ser612ArgfsTer33 in exon 5 in GLIS3 gene.To date, the patient is followed up for 4 years in total. Currently, growth retardation, psychomotor and speech development persist. Carbohydrate metabolism and thyroid profile has been subcompensated against the background of replacement therapy. No other components of the syndrome have been identified.In this report, we have demonstrated the features of the neonatal diabetes mellitus in a patient with a defect in the GLIS3 gene. Early genetic verification of the diagnosis contributes to the timely starting of personalized therapy, can improve the quality of life of such patients, and, given the nature of inheritance, is necessary for medical genetic counseling of the family.

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H. Nagy, Katalin, János Pomucz, Richárd Varga, Edit Szabó, and Gyula Soltész. "Anthropometric data, fetal and neonatal complications in infants of diabetic mothers. Results of a 10-year retrospective study." Orvosi Hetilap 154, no. 5 (February 2013): 172–77. http://dx.doi.org/10.1556/oh.2013.29540.

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Introduction: Disturbances in carbohydrate metabolism during pregnancy may result in harmful fetal and neonatal consequences. Objectives: To assess the fetal and neonatal complications of pregnancy in mothers with gestational and pregestational diabetes during a 10-year period in a county hospital in Hungary. Methods: Retrospective analysis of infants of diabetic mothers admitted to the neonatal unit between 2001 and 2010. Results: 32% of the infants were transferred to the neonatal unit. Neonatal macrosomia (birth weight >90 centile) was observed in one quarter of the infants. 39% of the infants developed hypoglycemia (blood glucose <2.6 mmol/l), in the majority of the cases within the first 8 hours. Hypoglycaemia was symptomatic in 55% of the infants. Hypocalcemia was observed in 17%, hyperviscosity in 23%, hyperbilirubinaemia in 32%, respiratory distress syndrome and/or transient tachypnoe in 22% and cardiac complications in 13% of the infants. 10% of the inafnts were affected with birth injuries. Congenital anomalies were seen in 17% of the cases, and severe malformations were present in 4% of the infants. Conclusions: Despite modern diabetes management, there is still a higher incidence of fetal macrosomia, adverse neonatal outcomes and a higher rate of severe congenital malformations in neonates of diabetic mothers. Orv. Hetil., 2013, 154, 172–177.

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Sthapak, Eti, Ujjwal L. Gajbe, SP Wanjari, Vijai Datta Upadhyaya, and Basant Kumar. "Thyroid Agenesis: A Case Report with Review of Literature." World Journal of Endocrine Surgery 4, no. 3 (2012): 99–101. http://dx.doi.org/10.5005/jp-journals-10002-1107.

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ABSTRACT The thyroid gland, a highly vascular endocrine gland, is composed of two lateral lobes connected by a narrow median isthmus thus giving an ‘H’-shaped appearance to the gland. Congenital thyroid abnormalities mostly include unilateral lobar agenesis, with or without involving the isthmus. We are reporting a case rudimentary right lobe with absence of isthmus. The knowledge of various developmental anomalies of the gland and variations in neurovascular relations will help the surgeon in better planning of a safe and effective surgery. How to cite this article Sthapak E, Gajbe UL, Wanjari SP, Upadhyaya VD, Kumar B. Thyroid Agenesis: A Case Report with Review of Literature. World J Endoc Surg 2012;4(3): 99-101.

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Park, Jisun, Su Jin Kim, GoHun Seo, and Ji-Eun Lee. "Weiss-Kruszka Syndrome With Unreported Manifestations; Empty Sella Syndrome Associated With Growth Hormone Deficiency." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A619. http://dx.doi.org/10.1210/jendso/bvab048.1262.

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Abstract Objective: Weiss-Kruszka syndrome (WSKA; MIM#618,619) is a rare, autosomal dominant disorder associated with zinc finger protein 462 (ZNF462) gene variation or deletion of 9q31.2 involving ZNF462 and various congenital anomalies. Its specific clinical findings are abnormal facial shape, prominent forehead, high arched eyebrow, ptosis, delayed development of motor and language and mild global developmental delay. The prevalence of WSKA is only 25 individuals from literatures. Brain lesions related to WSKA are known as ventriculomegaly and middle line brain abnormalities like corpus callosum hypoplasia in about 25 percent of the patients. However, there have not been reported a patient who has structural malformation of pituitary gland with endocrine dysfunction. Here, we present a Korean boy molecularly confirmed as WSKA, having newly clinical manifestation of primary empty sella syndrome(ESS) associated with growth hormone deficiency(GHD). Case Presentation: A 16-year-old boy visited to our hospital presented with severe short stature and delayed puberty. He also complained mild hypotonia, congenital both ptosis, mild intellectual disability. In the anterior pituitary combined test, GHD was diagnosed. In the brain magnetic resonance image, ESS was showed. With starting and continuing recombinant human growth hormone replacement therapy, to identify the underlying genetic cause, chromosomal microarray analysis and whole exome sequencing test were conducted. Finally, a heterozygous novel frameshift variant, c.4185del(p.Met1396Ter) in ZNF462 confirmed by Sanger sequencing, which had not been reported was identified Conclusions: This is the first case of WSKA of an Asian with novel pathogenic variant of ZNF462 and new clinical features including primary ESS associated with GHD. This case could contribute to diagnosis of this syndrome, identify clinical features and provided novel insight into studies for the role of ZNF462 gene.

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Gurnurkar, Shilpa, Unnati Patel, Katherine Lord, and Neha Vyas. "Successful Use of Intragastric Dextrose in a Unique Presentation of Congenital Hyperinsulinism." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A706. http://dx.doi.org/10.1210/jendso/bvab048.1438.

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Abstract Introduction: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and can pose challenges if unresponsive to diazoxide. HI can be caused by monogenic mutations or can be associated with genetic syndromes. Macrocephaly Capillary malformation (MCAP) is a rare overgrowth syndrome, caused by heterozygous variants in the PIK3CA gene. A small number of pathologic variants in this gene have been reported to cause HI. Clinical Case: A 4-month-old boy presented with a hypoglycemic seizure while fasting for an MRI. His history was notable for being born LGA and having macrocephaly, segmental infantile hemangioma, and ventriculomegaly requiring VP shunt. Critical labs were consistent with HI: plasma glucose (PG) of 23 mg/dL (54-117), inappropriately detectable insulin (2.7 mIU/mL) and c-peptide (1.6 ng/mL), low beta hydroxybutyrate (0.1 mmol/L) and low free fatty acids (0.16 mmol/L), and a positive glucagon stimulation test (increase in PG from 48 to 101 mg/dL in 30 minutes). Diazoxide was started at 5 mg/kg/day and titrated to 15 mg/kg/day, but he was unable to maintain PG >70 mg/dL. He was deemed unresponsive and the diazoxide was discontinued. His intravenous glucose infusion rate (GIR) was 14.4 mg/kg/min. An octreotide trial (8 mcg/kg/day) revealed a robust response: PG 64 mg/dL before initial dose, 105 mg/dL 3 hours later. However, he developed tachyphylaxis to the octreotide and it was discontinued. To further evaluate the etiology of his HI, he underwent an 18F-DOPA PET scan, which showed diffuse uptake. Genetic sequencing for the 9 known HI genes was negative. At 6-months-old, he was evaluated by genetics who based on his clinical features diagnosed him with MCAP. After failure of diazoxide and octreotide therapies, he was slowly transitioned from IV dextrose to continuous intragastric dextrose (IGD) using D20W. He was managed with a GIR of 10 mg/kg/min during the day (while receiving bolus feeds) and 5 mg/kg/min while on continuous feeds overnight. The continuous IGD allowed him to maintain euglycemia and develop his oral feeding skills. By 17-months-old, feeds by mouth improved and GIR had decreased to 6.5 mg/kg/min during the day and 2.5 mg/kg/min overnight. Genetic analysis eventually revealed a heterozygous p.Glu365Lys (c.1093 G>A) variant in the PIK3CA gene as the likely cause of the HI. Conclusion: Genetic syndromes should be considered in infants with persistent hyperinsulinism and multiple congenital anomalies. Clinical work-up may provide important clues to the diagnosis. Diazoxide unresponsive HI can be treated with continuous IGD to prevent hypoglycemia-induced brain damage. Continuous IGD likely leads to better oral skills and decreased oral aversion compared to using continuous formula feeds.

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Ma, Deqiong, Allen Bale, and Hui Zhang. "A genotype-first-approach for disease-gene validity investigation on COL4A1-asscoiated congenital anomalies of the kidney and urinary tract." Molecular Genetics and Metabolism 132 (April 2021): S283. http://dx.doi.org/10.1016/s1096-7192(21)00521-7.

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Kahn, Ellen. "Biliary Atresia Revisited." Pediatric and Developmental Pathology 7, no. 2 (March 2004): 109–24. http://dx.doi.org/10.1007/s10024-003-0307-y.

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Extrahepatic biliary atresia (EHBA) is an inflammatory fibrosing process affecting the extrahepatic and intrahepatic biliary tree resulting in fibrous obliteration of the extrahepatic biliary tract, ductopenia of intrahepatic bile ducts, and biliary cirrhosis. EHBA is divided into a correctable and a noncorrectable type with focal patency of the otherwise atretic biliary tree in the former and no patency of the biliary tree in the noncorrectable type. EHBA is divided in a fetal, prenatal or embryonic, and a more common, perinatal, acquired form. The symptoms of the former start shortly after birth and there is frequently an association with a variety of congenital anomalies. Children with the perinatal form become jaundiced several weeks after birth; no associated congenital anomalies are present. Morphologically, an inflammatory and fibrosing process of the extrahepatic biliary tree leads to complete lumenal obliteration. The liver is characterized by a nonspecific giant cell transformation, and portal expansion by fibrous connective tissue with marked ductular proliferation. With time, ductopenia and biliary cirrhosis develop. The diffential diagnosis with other conditions with similar microscopic patterns such as alpha-1 antitrypsin deficiency, total parental nutrition, obstruction by a choledochal cyst, arteriohepatic dysplasia, familial progressive intra-hepatic cholestasis, and alteration of the bile acid metabolism is discussed. In the fetal group, abnormalities in different genes seem to play a role; ductal plate malformation is another possibility. Different etiologies have been postulated in the perinatal form of EHBA: genetic susceptilibility, vascular factors, toxins, and infections mainly by rotavirus and reovirus. The pathogenesis is complex. EHBA is a heterogenous disease, resulting from a combination of genetic factors, insults, and activation of different genetic and immunologic pathways. The treatment of EHBA is surgical, with anastomosis between the biliary tree and the intestine in the correctable type and a hepatic portoenterostomy (HPE) for the noncorrectable group. HPE is a temporizing treatment allowing the infant to develop and grow, followed in the majority of the patients by liver transplantation.

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Epp, Nikolas, Gerhard Fürstenberger, Karsten Müller, Silvia de Juanes, Michael Leitges, Ingrid Hausser, Florian Thieme, Gerhard Liebisch, Gerd Schmitz, and Peter Krieg. "12R-lipoxygenase deficiency disrupts epidermal barrier function." Journal of Cell Biology 177, no. 1 (April 2, 2007): 173–82. http://dx.doi.org/10.1083/jcb.200612116.

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12R-lipoxygenase (12R-LOX) and the epidermal LOX-3 (eLOX-3) constitute a novel LOX pathway involved in terminal differentiation in skin. This view is supported by recent studies showing that inactivating mutations in 12R-LOX and eLOX-3 are linked to the development of autosomal recessive congenital ichthyosis. We show that 12R-LOX deficiency in mice results in a severe impairment of skin barrier function. Loss of barrier function occurs without alterations in proliferation and stratified organization of the keratinocytes, but is associated with ultrastructural anomalies in the upper granular layer, suggesting perturbance of the assembly/extrusion of lamellar bodies. Cornified envelopes from skin of 12R-LOX–deficient mice show increased fragility. Lipid analysis demonstrates a disordered composition of ceramides, in particular a decrease of ester-bound ceramide species. Moreover, processing of profilaggrin to monomeric filaggrin is impaired. This study indicates that the 12R-LOX–eLOX-3 pathway plays a key role in the process of epidermal barrier acquisition by affecting lipid metabolism, as well as protein processing.

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Burrill, Natalie, Suzanne Debari, Beverly Coleman, Deborah Zarnow, Alison Warner, Julie Moldenhauer, and Christina Paidas Teefey. "Whole exome sequencing identifies numerous variants in a deceased fetus with multiple congenital anomalies: which one(s) is our likely answer?" Molecular Genetics and Metabolism 132 (April 2021): S316. http://dx.doi.org/10.1016/s1096-7192(21)00570-9.

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Dandurand, Karel, Dalal Ali, Susan Tran, Tina Zhou, and Aliya Aziz Khan. "Delayed Diagnosis of Congenital Hypoparathyroidism in a Kindred of Three Patients With Autosomal Dominant Deafness." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A189. http://dx.doi.org/10.1210/jendso/bvab048.383.

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Abstract Background: Congenital hypoparathyroidism can be related to autosomal dominant mutations or deletions in GATA-binding protein 3 gene on chromosome 101,2. Affected patients present with a triad of hypoparathyroidism, renal dysplasia and neurosensorial deafness. We hereby present the case of a patient with the rare Barakat syndrome, also known as HDR syndrome. Clinical Case: A 11-year-old girl, diagnosed with deafness at birth, was brought to medical attention because of menorrhagia requiring blood transfusions two months after menarche. A pelvic ultrasound demonstrated a septate uterus as well as right multicystic dysplastic kidney with solitary left kidney and ovary. As her maternal grandmother, mother and older sister suffered from congenital deafness and her mother also had a kidney cyst, the patient was referred to genetics to identify a unifying cause of the autosomal dominant pattern of deafness and urogenital anomalies. Chromosome microarray analysis revealed a copy number change on chromosome 10p14 of 1925 kb predicted to result in the deletion of a single protein coding gene, GATA3. Embryonically, GATA3 is involved in the development of the inner ear, kidneys and parathyroid glands. The patient was lost to follow up so that a serum calcium was drawn three years later, revealing low ionized calcium of 1.06 mmol/L (N 1.16–1.29), low corrected total calcium of 2.11 mmol/L (N 2.30–2.62) along with PTH of 1.1 pmol/L (N 2.0–9.4), PO4 of 1.73 mmol/L (N 1.03–1.78) and creatinine of 64 umol/L (N 50–71). She was started on calcium carbonate 1000 mg TID and calcitriol 0.5 mcg BID and genetic analysis of the mother and sister revealed the same mutation compatible with Barakat syndrome. Compliance has been difficult, and when the patient transitioned to adult endocrinology three years later, she was on alfacalcidiol 2 mcg daily along with calcium carbonate 1500 mg daily and her labs were still suboptimal with a total corrected calcium of 1.82 mmol/L (N 2.22–2.54) and ionized calcium 0.98 mmol/L (N 1.16–1.29). Renal function determines the prognosis, and reassuringly her creatinine remains normal. Upon further questioning of the mother, she recalls that the patient had to be intubated for respiratory failure as a newborn, she had delayed milestones and also had seizure like activity during her infancy and early childhood. She had brought these symptoms to her family physician’s attention however no further investigations were completed and serum calcium was not checked. Conclusion: Early recognition of hypocalcemia symptoms is critical in identifying patients with congenital hypoparathyroidism, even more so when associated with other features that are part of complex familial syndrome such as Barakat syndrome. 1. Barakat, AJ. Barakat syndrome revisited. Am J of Med Genet A. 2018, Jun; 176(6):1341–13482. Barakat, AY. Familial nephrosis, nerve deafness and hypoparathyroidism. J Pediatri. 1977;9(1):61

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Ratchford, Ann M., Aimee S. Chang, Maggie M. Y. Chi, Rachael Sheridan, and Kelle H. Moley. "Maternal diabetes adversely affects AMP-activated protein kinase activity and cellular metabolism in murine oocytes." American Journal of Physiology-Endocrinology and Metabolism 293, no. 5 (November 2007): E1198—E1206. http://dx.doi.org/10.1152/ajpendo.00097.2007.

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Maternal diabetes is associated with an increased risk of miscarriages and congenital anomalies. Preovulatory oocytes in murine models also experience maturational delay and greater granulosa cell apoptosis. The objective of this study was to examine whether maternal diabetes influences preovulatory oocyte metabolism and impacts meiotic maturation. Streptozotocin-induced diabetic B6SJLF1 mice were superovulated, and oocytes were collected at 0, 2, and 6 h after human chorionic gonadotropin (hCG) injection. Individual oocyte concentrations of ATP, 5′-AMP, glycogen, and fructose-1,6-phosphate (FBP) and enzyme activities of glucose-6-phosphate dehydrogenase (G6PDH), adenylate kinase, hydroxyacyl-CoA dehydrogenase (Hadh2), and glutamic pyruvate transaminase (Gpt2) were measured. Protein levels of phosphorylated AMP-activated protein kinase (AMPK) and acetyl-CoA carboxylase (ACC) were also measured. ATP levels were significantly lower in oocytes from diabetic mice, and the percent change in the AMP-to-ATP ratio was significantly higher in these oocytes. In contrast, activities of Hadh2 and Gpt2, two enzymes activated by AMPK, were significantly less in these oocytes. Additionally, glycogen and FBP levels, both endogenous inhibitors of AMPK, were elevated. Phosphorylated ACC, a downstream target of AMPK, and phosphorylated AMPK were both decreased in diabetic oocytes, thus confirming decreased AMPK activity. Finally, addition of the activator AICAR to the in vitro maturation assay restored AMPK activity and corrected the maturation defect experienced by the oocytes from diabetic mice. In conclusion, maternal diabetes adversely alters cellular metabolism leading to abnormal AMPK activity in murine oocytes. Increasing AMPK activity in these oocytes during the preovulatory phase reverses the metabolic changes and corrects delays in meiotic maturation.

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Bonomi, Marco, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, et al. "Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)." European Journal of Endocrinology 178, no. 1 (January 2018): 23–32. http://dx.doi.org/10.1530/eje-17-0065.

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Objective Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present although information on their frequency are scanty, particularly according to the age of presentation. Design Observational cohort study carried out between January 2008 and June 2016 within a national network of academic or general hospitals. Methods We performed a detailed phenotyping of 503 IHH patients with: (1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; (2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects. Cohort was divided on IHH onset (PPO, pre-pubertal onset or AO, adult onset) and olfactory function: PPO-nIHH (n = 275), KS (n = 184), AO-nIHH (n = 36) and AO-doIHH (AO-IHH with defective olfaction, n = 8). Results 90% of patients were classified as PPO and 10% as AO. Typical midline and olfactory defects, bimanual synkinesis and familiarity for pubertal delay were also found among the AO-IHH. Mean age at diagnosis was significantly earlier and more frequently associated with congenital hypogonadism stigmata in patients with Kallmann’s syndrome (KS). Synkinesis, renal and male genital tract anomalies were enriched in KS. Overweight/obesity are significantly associated with AO-IHH rather than PPO-IHH. Conclusions Patients with KS are more prone to develop a severe and complex phenotype than nIHH. The presence of typical extra-gonadal defects and familiarity for PPO-IHH among the AO-IHH patients indicates a common predisposition with variable clinical expression. Overall, these findings improve the understanding of IHH and may have a positive impact on the management of patients and their families.

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Turkyilmaz, Ayberk, Atilla Cayir, Oguzhan Yarali, Erdal Kurnaz, Emine Kartal Baykan, Esra Arslan Ates, and Huseyin Demirbilek. "Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism." Journal of Pediatric Endocrinology and Metabolism 34, no. 6 (April 6, 2021): 771–80. http://dx.doi.org/10.1515/jpem-2020-0590.

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Abstract Objectives Hypogonadism is defined as inadequate sex hormone production due to defects in the hypothalamic-pituitary-gonadal axis. In recent years, rare single gene defects have been identified in both hypergonadotropic hypogonadism (Hh), and hypogonadotropic hypogonadism (HH) cases with no chromosomal anomalies. The aim of the present study is to investigate the underlying molecular genetic etiology and the genotype-phenotype relationship of a series of patients with Hh and HH. Methods In total, 27 HH and six Hh cases were evaluated. Clinical and laboratory features are extracted from patients’ hospital files. Whole exome sequencing (WES) analysis was performed. Results A total of 27 HH cases (15 female) (mean age: 15.8 ± 2.7 years) and six Hh patients (six females) (mean age: 14.9 ± 1.2 years) were included. In molecular genetic analysis, a pathogenic/likely pathogenic variant was identified in five (two patients from the same family) of 27 HH cases (two novel) and three of the six Hh. In HH group variants (pathogenic, likely pathogenic and variant of uncertain significance) were identified in KISS1R (n=2), PROK2 (n=1), FGFR1 (n=1), HS6ST1 (n=1), GNRH1 (n=1) genes. In the Hh group, splice-site mutations were detected in DCAF17 (n=1) and MCM9 (n=2) genes. Conclusions HH and Hh cases are genetically heterogeneous diseases due to oligogenic inheritance, incomplete penetrance, and variable expressivity. We found rare variants in CHH related genes in half of our HH cases, whereas they classified as pathogenic/likely pathogenic according to ACMG criteria in only about 15% of HH cases. Using advanced genetic analysis methods such as whole-genome sequencing and long-read sequencing may increase the mutation detection rate, which should always be associated with and expert genetic counseling to interpret the data.

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Hammoud, Batoul, Natalie Marie Hecht Baldauff, Svetlana Yatsenko, and Selma Feldman Witchel. "22q13 Duplication in Newborn With Dysmorphic Features: The Role of SOX10 in Disorders of Sex Development." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A689—A690. http://dx.doi.org/10.1210/jendso/bvab048.1404.

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Abstract Background: The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male reversal, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% are SRY-negative. Here we present a 2 week old with discrepant prenatal karyotype and infant phenotype. Case: This 2-week-old had dysmorphic features (bitemporal narrowing, broad and flat nasal bridge, bilateral epicanthal folds) and multiple congenital anomalies; IUGR, hypertelorism, cleft lip and palate, ASD, small kidneys, sacral dimple. Physical exam revealed palpable inguinal masses and microphallus without hypospadias. Postnatal karyotype showed a 46,XX chromosome complement with duplication of 22q13-qter. He was negative for SRY gene by FISH. Microarray analysis confirmed the duplication encompassing the SOX10 gene. Lab evaluation showed LH 10.81 mIU/ml, FSH 3.21 mIU/ml and total testosterone 241 ng/dl. These values are consistent with activation of the hypothalamic–pituitary–gonadal axis during the neonatal period in males. Conclusion: Our case along with previous cases supports the existence of a gene on chromosome 22q that can trigger testis determination in the absence of SRY. Potential mechanisms responsible for ovotesticular disorder in the XX (SRY−) individual could involve activation of testis specifying genes in the absence of SRY and/or inadequate expression of pro-ovary/anti-testis genes such as SOX 8 and SOX9. SOX10, a gene closely related to SOX9 and SOX8, and its overexpression has been suggested as a candidate for 46,XX DSD. Over-expression of SOX10 in mice resulted in the XX DSD. The spectrum of sex reversal phenotypes and gonadal asymmetry seen in the Sox10 transgenic mice closely mirrors the range of gonadal and reproductive tract anomalies seen in cases of partial duplication of human chromosome 22q13. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.

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Nikitina, I. L., A. M. Todieva, A. S. Liskina, A. О. Plaksina, N. A. Petrova, I. A. Leonova, E. К. Kudryashova, A. A. Kostareva, and J. I. Vasilyeva. "Congenital insulin resistance in the practice of the pediatrician and pediatric endocrinologist -path to diagnosis." Meditsinskiy sovet = Medical Council, no. 17 (November 1, 2021): 272–81. http://dx.doi.org/10.21518/2079-701x-2021-17-272-281.

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Introduction. Hyperinsulinemic hypoglycemia in children is most commonly due to congenital hyperinsulinism. When hyperinsu-linemia is accompanied by fasting hypoglycemia and postprandial hyperglycemia, rare syndromes of severe insulin resistance, which include Rabson - Mendenhall syndrome, should be suspected. This article provides an analytical review of current data on this rare genetic pathology and presents a clinical case of a previously undescribed combination of Rabson-Mendenhall syndrome with mutations in the insulin receptor gene INSR in the compound heterozygous state with multiple congenital anomalies of other organs.Clinical case. Patient N, 5.5 months old boy, with suspected congenital hyperinsulinism due to episodes of frequent severe hypoglycemia from the first day of life. At the age of 5 months, an episode of hypoglycemia up to 2.2 mmol/L was registered at an appointment with a pediatric endocrinologist. An examination was ordered, which found that against a background decrease in blood glucose to 1.9 mmol/L, C-Peptide level >5000 ng/mL, insulin level >300 lU/mL, cortisol - 971 nmol/L, TSH -3.88 mlU/L, free T4 - 10.53 pmol/L (10-23.2).The importance of early diagnosis of severe insulin resistance to prevent developmental disorders in children is emphasized. The issue of organizing multiple effective monitoring of a patient’s glycemia required special attention in this clinical case. Due to the features of metabolism in young children, we abandoned flash glucose monitoring systems and used a modern glucose meter with an integration program with a mobile application and the ability to generate reports for subsequent analysis as a reliable means of glycemic control.Summary. Based on the results of the genetic study in association with the clinical phenotype, age of debut, the patient was clinically diagnosed with Rabson-Mendenhall syndrome.Discussion. The paradoxical nature of glycemic fluctuations (severe fasting hypoglycemia and postprandial diabetic hyperglycemia) is quite typical for syndromes of severe insulin resistance and should draw the attention of an informed primary care physician.Conclusion. Careful attention to the symptoms of hypoglycemia, especially with a debut in the neonatal period, recurrent episodes, and the severity of the decrease in blood glycemia. If normal or elevated levels of insulin and C-peptide are detected against the background of hypoglycemia, the first thing to think about is congenital hyperinsulinism.

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Druzhinina, N. A., and D. R. Merzlyakova. "Peculiarities of health and bone metabolism of children born through IVF." Medical Council, no. 2 (February 16, 2019): 231–39. http://dx.doi.org/10.21518/2079-701x-2019-2-231-239.

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The multiple increase in the number of «conceived in vitro» newborns is accompanied by an increase in the number of questions arising around this method of infertility treatment Evaluating the potential health realities of this category of children, it is necessary to consider the course of pregnancy caused by ART as a fundamental factor directly affecting the well-being of the future child. Patients who became pregnant as a result of the use of ART are a special group that differs not only from pregnant women with normal reproductive function, but also from pregnant women with long-term infertility in their history. Children’s health is criteria for assessing the well-being of society, the basis of its sustainable development and national security. Some members of the medical community suggest banning ART because of the «environmental degradation of reproduction, which leads to an almost doubling of infant mortality and congenital anomalies». Negative emotions are often caused today not even by assisted reproduction methods themselves, but by preimplantation diagnosis to select embryos based on specific characteristics, which is sometimes medically necessary. The skeletal system of newborn children is characterized by a number of features: the presence of large amounts of cartilage, the reticular structure of the bones, the rich vascular network in the areas of the bone neck and a significant thickness of the periosteum. In the first months and years of life, along with the development of the skeleton, there is a multiple rearrangement of the structure of bone tissue, reflecting its phylogenesis. Intensive growth with simultaneous remodeling creates a very special position for bone tissue, in which it is particularly sensitive to adverse effects of the environment, namely, disorders of nutrition, motor behavior of the child, muscle tone, etc. In premature infants, intense processes of phosphorus-calcium metabolism regulation are performed against the background of gestational immaturity of organs and general pathological reactions (hypoxia, acidosis), developing in the postnatal period. The study of health and bone metabolism in infants born through IVF remains an under-studied area of pediatrics and is of scientific interest for practical health care.

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Malhotra, Rakhi, Rashmi Shukla, Madhulika Kabra, Yashdeep Gupta, Viveka P. Jyotsna, and Rajesh Khadgawat. "Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome." Journal of Pediatric Endocrinology and Metabolism 33, no. 9 (September 25, 2020): 1155–63. http://dx.doi.org/10.1515/jpem-2020-0104.

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AbstractObjectivesTo evaluate if the parental origin of X-chromosome has an impact on the phenotype and biochemical profile in Turner syndrome (TS). Result of the previous studies have been equivocal and could be attributable to the multicentric study design with different experts examining heterogeneous TS population of various ethnic background.MethodsA cross-sectional single center study from Northern India. Fifty nine diagnosed subjects of TS and their parents participated in the study. Parental origin of intact X-chromosome was determined using 12 highly polymorphic short tandem repeats (STR) on X-chromosome. For the evaluation of parent-of-origin effects, typical phenotypic traits including congenital malformations, anthropometry, body composition by dual energy X-ray absorptiometry (DXA) and biochemical profile were compared. Clinical stigmata of TS in all subjects were examined by a single expert.ResultsThe intact X-chromosome was of maternal origin (Xm) in 49.1% subjects while 50.9% had paternal origin (Xp). Skeletal anomalies were more common in Xm group, out of which prevalence of short neck and short fourth metatarsal reached statistical significance (p=0.04 and 0.01 respectively). A strong correlation was observed between subject’s baseline height standard deviation score (Ht SDS) and paternal height (r=0.593, p<0.001), maternal height (r=0.564, p<0.001) and mid-parental height (MPH) (r=0.372, p=0.047) in Xp group. This effect was not seen in Xm subjects whose baseline Ht SDS showed no significant correlation with maternal height, paternal height or MPH. No differences were detected between the groups with regard to biochemical profile or body composition.ConclusionsWe speculate that the differences in skeletal anomalies and height correlations between Xm and Xp groups could be due to the modifying effect of epigenetic signature on short stature homeobox (SHOX) gene of Xm. SHOX gene is not modified on Xp thereby explaining the paucity of skeletal changes and height correlations in Xp subjects.

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Seppä, Satu, Tanja Kuiri-Hänninen, Elina Holopainen, and Raimo Voutilainen. "MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty." European Journal of Endocrinology 184, no. 6 (June 1, 2021): R225—R242. http://dx.doi.org/10.1530/eje-20-1487.

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Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive capacity. In girls, menarche is a late marker of puberty. Primary amenorrhea is defined as the absence of menarche in ≥ 15-year-old females with developed secondary sexual characteristics and normal growth or in ≥13-year-old females without signs of pubertal development. Furthermore, evaluation for primary amenorrhea should be considered in the absence of menarche 3 years after thelarche (start of breast development) or 5 years after thelarche, if that occurred before the age of 10 years. A variety of disorders in the hypothalamus–pituitary–ovarian axis can lead to primary amenorrhea with delayed, arrested or normal pubertal development. Etiologies can be categorized as hypothalamic or pituitary disorders causing hypogonadotropic hypogonadism, gonadal disorders causing hypergonadotropic hypogonadism, disorders of other endocrine glands, and congenital utero–vaginal anomalies. This article gives a comprehensive review of the etiologies, diagnostics and management of primary amenorrhea from the perspective of pediatric endocrinologists and gynecologists. The goals of treatment vary depending on both the etiology and the patient; with timely etiological diagnostics fertility may be attained even in those situations where no curable treatment exists.

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Islam, Mirza Md Ziaul, Md Kamruzzam, BH Nazma Yasmeen, Nasreen Begum, and AFM Ashik Imran. "Evaluation of Chronic Cough in Children: A Prospective Study in a Tertiary Care Hospital." Northern International Medical College Journal 9, no. 1 (March 12, 2018): 264–66. http://dx.doi.org/10.3329/nimcj.v9i1.35925.

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Background : Chronic cough is a common complaint in children which causes distress, and affects the quality of life of parents and children. While cough may be seen as a common condition of childhood without serious consequences, ignoring a cough that may be the sole presenting symptom of an underlying illness can lead to delayed diagnosis and progression to a chronic respiratory morbidity.Objective : To evaluate the specific diagnosis and prognosis of chronic cough in children.Methods : A prospective study was done on children with chronic cough (history of cough>8 weeks) referred to Dhaka Shishu (Children) Hospital, a tertiary hospital.Children aged 2 to 8 years with chronic cough referred by the general physicians, pediatricians and other peripheral hospitals were the study subjects. Exclusion criteria were children with immune-deficiency,congenital anomalies of lung,congenital heart disease, gastro-intestinal disorders (e.g. gastro-esophageal reflux, peptic ulcer disease), in born error of metabolism (e.g. cystic fibrosis) and other chronic conditions (e.g. gross neurodevelopmental delay). The evaluation of chronic cough was based on simple principles: careful history-taking concerning the characteristics of the cough, full clinical examination to look for any associated symptoms and relevant investigations done. Underlying diagnoses and outcomes were ascertained after follow-up for a period of six months and treatment was given as per the management protocol of the hospital.Results : The most common final diagnosis was allergic rhinitis (31%), followed by asthma (28.6%), rhinitis coexisting with asthma (23.8%), post viral cough (16.6). Cough resolved in 54.8%, partially improved in 40.5% and persisted in 4.7% of patients.Conclusion : Allergic rhinitis with or without co-existing asthma was the commonest cause of chronic cough in children referred to this hospital.Northern International Medical College Journal Vol.9(1) July 2017: 264-266

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Sharma, Himanshu, Anshul Kumar, Naincy Purwar, Nitish Mathur, Balram Sharma, and Sandeep Kumar Mathur. "Pituitary Hypoplasia Is the Best MRI Predictor of the Severity and Type of Growth Hormone Deficiency in Children With Congenital Growth Hormone Deficiency." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A683. http://dx.doi.org/10.1210/jendso/bvab048.1392.

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Abstract Background and Objectives: Congenital idiopathic growth hormone deficiency(GHD) is associated with various MRI abnormalities, including both sellar anomalies such as pituitary hypoplasia, ectopic pituitary, empty sella and abnormalities of the pituitary stalk and extrasellar abnormalities such as Arnold Chiari malformation, corpus callosum agenesis, arachnoid cyst, septum pellucidum agenesis, enlarged ventricles, vermis dysplasia, and sphenoid cyst. However, it remains contentious whether MRI brain findings could provide an additional avenue for precisely predicting the differentiation of GHD based on severity(severe or partial) and type(isolated GHD or multiple pituitary hormone deficiency MPHD). This study aimed to ascertain the abnormality that is the best predictor of severe GHD and type of GHD amongst the different MRI findings. Methods: This was an analytical cross-sectional study conducted from 2018-2020. During the study period, we included a total of 100 subjects diagnosed to have idiopathic GHD after the exclusion of syndromic causes, system illness, presence of pituitary mass, and those with h/o cranial irradiation. Patients were divided into severe GHD and partial GHD based on peak stimulated GH of <5 ng/dl and ≥ 5 ng/dl respectively and into groups based on isolated GHD and MPHD. Patients were further divided into groups based on the presence of pituitary hypoplasia,extrasellar brain abnormalities (EBA), and presence of ectopic posterior pituitary and/or pituitary stalk abnormalities(EPP/PSA), respectively. Analyses were performed using SPSS version 24.0 software. Results: Amongst 100 subjects with idiopathic congenital GHD, 66 (66%) subjects had Isolated GHD while the remaining 34 (34%) had MPHD. 71 had severe GHD, and 29 had partial GHD. Amongst the MRI findings, pituitary hypoplasia was the most common finding observed in 53% of patients, while 23(23%) had EBA, and 25(25%) had EPP/PSA. Pituitary hypoplasia was observed to be the best predictor of severity of GHD with an odds ratio(OR) of 10.8 (95% CI 3.38-29.6) followed by ectopic posterior pituitary /pituitary stalk abnormalities (OR =2.8, 95% CI 1.5-9.5) while the presence of extrasellar abnormalities was the weakest predictor (OR =1.8, 95% CI 1.05-3.2). Pituitary hypoplasia was the only finding to significantly predict MPHD (OR=9.2). On ROC analysis, a Pituitary height SDS of -2.03 had a 73.2 % sensitivity and specificity of 79.3%(AUC =0.787,95% CI 0.7-0.873) for severe GHD and a sensitivity of 88.2 % and specificity of 66.7% (AUC =0.745, 95% CI 0.68-0.877) for MPHD. Conclusion: We observed Pituitary hypoplasia to be not only the most frequent MRI abnormality but also the best predictor of severe GHD and MPHD amongst various sellar and extrasellar abnormalities.

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Cohen, Enzo, Mohamad Maghnie, Nathalie Collot, Juliane Leger, Florence Dastot, Michel Polak, Sophie Rose, et al. "Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients." Journal of Clinical Endocrinology & Metabolism 102, no. 1 (November 7, 2016): 290–301. http://dx.doi.org/10.1210/jc.2016-3158.

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Abstract Context: LHX4 encodes a LIM-homeodomain transcription factor that is implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism. Objective: The aims of this study were to evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, to define the associated phenotypes, and to characterize the functional impact of the identified variants and the respective role of the 2 LIM domains of LHX4. Design and Patients: We screened 417 unrelated patients with isolated growth hormone deficiency or combined pituitary hormone deficiency associated with ectopic posterior pituitary and/or sella turcica anomalies for LHX4 mutations (Sanger sequencing). In vitro studies were performed to assess the functional consequences of the identified variants. Results: We identified 7 heterozygous variations, including p.(Tyr131*), p.(Arg48Thrfs*104), c.606+1G>T, p.Arg65Val, p.Thr163Pro, p.Arg221Gln, and p.Arg235Gln), that were associated with variable expressivity; 5 of the 7 were also associated with incomplete penetrance. The p.(Tyr131*), p.(Arg48Thrfs*104), p.Ala65Val, p.Thr163Pro, and p.Arg221Gln LHX4 variants are unable to transactivate the POU1F1 and GH promoters. As suggested by transactivation, subcellular localization, and protein-protein interaction studies, p.Arg235Gln is probably a rare polymorphism. Coimmunoprecipitation studies identified LHX3 as a potential protein partner of LHX4. As revealed by functional studies of LIM-defective recombinant LHX4 proteins, the LIM1 and LIM2 domains are not redundant. Conclusion: This study, performed in the largest cohort of patients screened so far for LHX4 mutations, describes 6 disease-causing mutations that are responsible for congenital hypopituitarism. LHX4 mutations were found to be associated with variable expressivity, and most of them with incomplete penetrance; their contribution to pituitary deficits that are associated with an ectopic posterior pituitary and/or a sella turcica defect is ∼1.4% in the 417 probands tested.

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Journal articles on the topic 'Congenital anomalies metabolism'

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