Journal articles: 'Syndromic obesity'

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Sohn, Young Bae. "Genetic obesity: an update with emerging therapeutic approaches." Annals of Pediatric Endocrinology & Metabolism 27, no. 3 (2022): 169–75. http://dx.doi.org/10.6065/apem.2244188.094.

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Based on the genetic contribution, childhood obesity can be classified into 3 groups: common polygenic obesity, syndromic obesity, and monogenic obesity. More genetic causes of obesity are being identified along with the advances in the genetic testing. Genetic obesities including syndromic and monogenic obesity should be suspected and evaluated in children with early-onset morbid obesity and hyperphagia under 5 years of age. Patients with syndromic obesity have early-onset severe obesity associated specific genetic syndromes including Prader-Willi syndrome, Bardet-Biedle syndrome, and Alstrom syndrome. Syndromic obesity is often accompanied with neurodevelopmental delay or dysmorphic features. Nonsyndromic monogenic obesity is caused by variants in single gene which are usually involved in the regulation of hunger and satiety associated with the hypothalamic leptin-melanocortin pathway in central nervous system. Unlike syndromic obesity, patients with monogenic obesity usually show normal neurodevelopment. They would be presented with hyperphagia and early-onset severe obesity with additional clinical symptoms including short stature, red hair, adrenal insufficiency, hypothyroidism, hypogonadism, pituitary insufficiencies, diabetes insipidus, increased predisposition to infection or intractable recurrent diarrhea. Identifying patients with genetic obesity is critical as new innovative therapies including melanocortin 4 receptor agonist have become available. Early genetic evaluation enables to identify treatable obesity and provide timely intervention which may eventually achieve favorable outcome by establishing personalized management.

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Horwitz, Avital, and Ruth Birk. "Adipose Tissue Hyperplasia and Hypertrophy in Common and Syndromic Obesity—The Case of BBS Obesity." Nutrients 15, no. 15 (2023): 3445. http://dx.doi.org/10.3390/nu15153445.

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Obesity is a metabolic state generated by the expansion of adipose tissue. Adipose tissue expansion depends on the interplay between hyperplasia and hypertrophy, and is mainly regulated by a complex interaction between genetics and excess energy intake. However, the genetic regulation of adipose tissue expansion is yet to be fully understood. Obesity can be divided into common multifactorial/polygenic obesity and monogenic obesity, non-syndromic and syndromic. Several genes related to obesity were found through studies of monogenic non-syndromic obesity models. However, syndromic obesity, characterized by additional features other than obesity, suggesting a more global role of the mutant genes related to the syndrome and, thus, an additional peripheral influence on the development of obesity, were hardly studied to date in this regard. This review summarizes present knowledge regarding the hyperplasia and hypertrophy of adipocytes in common obesity. Additionally, we highlight the scarce research on syndromic obesity as a model for studying adipocyte hyperplasia and hypertrophy, focusing on Bardet–Biedl syndrome (BBS). BBS obesity involves central and peripheral mechanisms, with molecular and mechanistic alternation in adipocyte hyperplasia and hypertrophy. Thus, we argue that using syndromic obesity models, such as BBS, can further advance our knowledge regarding peripheral adipocyte regulation in obesity.

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Mahmoud, Ranim, Virginia Kimonis, and Merlin G. Butler. "Genetics of Obesity in Humans: A Clinical Review." International Journal of Molecular Sciences 23, no. 19 (2022): 11005. http://dx.doi.org/10.3390/ijms231911005.

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Obesity is a complex multifactorial disorder with genetic and environmental factors. There is an increase in the worldwide prevalence of obesity in both developed and developing countries. The development of genome-wide association studies (GWAS) and next-generation sequencing (NGS) has increased the discovery of genetic associations and awareness of monogenic and polygenic causes of obesity. The genetics of obesity could be classified into syndromic and non-syndromic obesity. Prader–Willi, fragile X, Bardet–Biedl, Cohen, and Albright Hereditary Osteodystrophy (AHO) syndromes are examples of syndromic obesity, which are associated with developmental delay and early onset obesity. Non-syndromic obesity could be monogenic, polygenic, or chromosomal in origin. Monogenic obesity is caused by variants of single genes while polygenic obesity includes several genes with the involvement of members of gene families. New advances in genetic testing have led to the identification of obesity-related genes. Leptin (LEP), the leptin receptor (LEPR), proopiomelanocortin (POMC), prohormone convertase 1 (PCSK1), the melanocortin 4 receptor (MC4R), single-minded homolog 1 (SIM1), brain-derived neurotrophic factor (BDNF), and the neurotrophic tyrosine kinase receptor type 2 gene (NTRK2) have been reported as causative genes for obesity. NGS is now in use and emerging as a useful tool to search for candidate genes for obesity in clinical settings.

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Brandsma, Annelies E., Romy Gaillard, Lotte Kleinendorst, et al. "OR14-2 Age of Onset of Obesity and Childhood BMI Trajectories in Rare Genetic Obesity Disorders." Journal of the Endocrine Society 6, Supplement_1 (2022): A613. http://dx.doi.org/10.1210/jendso/bvac150.1272.

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Abstract Introduction Early-onset obesity is a cardinal feature of rare genetic obesity disorders. According to the Endocrine Society guideline, genetic screening is indicated in selected cases with age of onset (AoO) of severe obesity (grade ≥2) &lt;5 years. However, this cut-off is not validated. Aims To present the detailed BMI characteristics of children and adolescents with rare genetic obesity disorders; to evaluate whether the following growth chart characteristics can aid in assessing which children should be screened for genetic obesity disorders: AoO of obesity, AoO of severe obesity, BMI standard deviation scores (SDS) at yearly age intervals. Methods In this prospective observational study, children with non-syndromic and syndromic genetic obesity disorders treated at our tertiary obesity center were included. Growth measurements from birth onwards were collected. Children with obesity from a population-based cohort study with follow-up until age 10 years were included as an unselected reference cohort. Diagnostic performance (sensitivity [sens], specificity [spec], positive likelihood ratio [LR+], area-under-the-curve [AUC]) for AoO of obesity and severe obesity and for BMI-SDS at yearly age intervals was calculated. Results We included 64 children with genetic obesity disorders (32 non-syndromic, 32 syndromic) and 298 control children with obesity. At intake, median age of children with genetic obesity was 10.5 years (IQR 7.0–14.7) and mean BMI-SDS +3.1 ± 1.1. Median AoO of obesity was 1.2 years (IQR 0.6–3.7) in non-syndromic genetic obesity, 2.1 years (IQR 0.9–4.2) in syndromic genetic obesity, and 3.8 years (IQR 2.3–6.2) in the control population. For non-syndromic genetic obesity, optimal cut-off value for AoO of obesity was ≤1.5 years: sens 0.60, spec 0.88, LR+ 5.22, AUC 0.79 (p&lt;0.001). For syndromic genetic obesity, optimal cut-off was ≤3.0 years: sens 0.68, spec 0.68, LR+ 2.06, AUC 0.67 (p=0.001). AoO of severe obesity showed worse diagnostic performance than AoO of obesity in both non-syndromic (AUC 0.58, p=0.20) and syndromic genetic obesity (AUC 0.58, p=0.21). Moreover, when the guideline cut-off &lt;5 years was used, AoO of severe obesity showed a negative diagnostic performance (non-syndromic genetic obesity: sens 0.76, spec 0.13, LR+ 0.88; syndromic genetic obesity: sens 0.85, spec 0.14, LR+ 0.98). BMI-SDS showed good diagnostic performance for non-syndromic genetic obesity across the age intervals (AUCs 0.79-0.89, all P&lt;0.001) but not for syndromic genetic obesity (AUCs 0.54-0.71, P-values ranging from &lt;0.001-0.50). Conclusion This study shows that growth charts characteristics such as BMI-SDS and AoO of obesity (grade 1), but not AoO of severe obesity (grade ≥2), could be useful to distinguish between children with genetic obesity disorders and children with obesity from a population-based cohort study. However, all investigated growth charts characteristics showed misclassification, especially in syndromic genetic obesity, indicating that additional clinical features should be present to warrant genetic testing in these children. Presentation: Sunday, June 12, 2022 11:15 a.m. - 11:30 a.m.

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Alsaeed, Suliman, Nelly Huynh, David Wensley, et al. "Orthodontic and Facial Characteristics of Craniofacial Syndromic Children with Obstructive Sleep Apnea." Diagnostics 13, no. 13 (2023): 2213. http://dx.doi.org/10.3390/diagnostics13132213.

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Introduction: Obstructive sleep apnea (OSA) is a disorder in which ventilation becomes disrupted due to a complete or partial upper airway obstruction Altered craniofacial morphology is one of the most important anatomical factors associated with obstructive sleep apnea (OSA). Studies have assessed craniofacial features in the non-syndromic pediatric population. The aim of this study was to analyze the orthodontic and facial characteristic of craniofacial syndromic children referred for polysomnography (PSG) and to assess the correlation with the apnea–hypopnea index (AHI). Methods: In the current cross-sectional study, consecutive syndromic patients referred for PSG were invited to participate. A systematic clinical examination including extra- and intra-oral orthodontic examination was performed by calibrated orthodontists. Standardized frontal and profile photographs with reference points were taken and analyzed using ImageJ® software to study the craniofacial morphology. PSG data were analyzed for correlation with craniofacial features. STROBE guidelines were strictly adopted during the research presentation. Results: The sample included 52 syndromic patients (50% females, mean age 9.38 ± 3.36 years) diagnosed with 17 different syndromes, of which 24 patients had craniofacial photography analysis carried out. Most of the sample (40%) had severe OSA, while only 5.8% had no OSA. Down’s syndrome (DS) was the most common syndrome (40%) followed by Goldenhar syndrome (5%), Pierre Robin Sequence (5%), and other syndromes. The severity of AHI was significantly correlated with decreased midfacial height. increased thyromental angle and cervicomental angle, decreased mandibular angle, and decreased upper facial height. All patients with DS were diagnosed with OSA (57% severe OSA), and their ODI was significantly correlated with increased intercanthal distance. Obesity was not correlated to the severity of AHI for syndromic patients. Conclusions: Decreased midfacial height and obtuse thyromental angle were correlated with increased AHI for syndromic patients. Increased intercanthal distance of DS patients could be a major predictor of OSA severity. Obesity does not seem to play a major role in the severity of OSA for syndromic patients. Further studies with larger samples are necessary to confirm these findings.

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Poitou, C., H. Mosbah, and K. Clément. "MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity." European Journal of Endocrinology 183, no. 5 (2020): R149—R166. http://dx.doi.org/10.1530/eje-20-0363.

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Obesity, defined by an excess of body fat impacting on health, is a complex disease resulting from the interaction between many genetic/epigenetic factors and environmental triggers. For some clinical situations with severe obesity, it has been possible to classify these obesity forms according to the molecular alterations. These include: (i) syndromic obesity, which associates severe early-onset obesity with neurodevelopmental disorders and/or polymalformative syndrome and (ii) non-syndromic monogenic obesity, due to gene variants most often located in the leptin-melanocortin pathway. In addition to severe obesity, patients affected by these diseases display complex somatic conditions, eventually including obesity comorbidities, neuropsychological and psychiatric disorders. These conditions render the clinical management of these patients particularly challenging. Patients’ early diagnosis is critical to allow specialized and multidisciplinary care, with a necessary interaction between the health and social sectors. Up to now, the management of genetic obesity was only based, above all, on controlling the patient's environment, which involves limiting access to food, ensuring a reassuring daily eating environment that limits impulsiveness, and the practice of adapted, supported, and supervised physical activity. Bariatric surgery has also been undertaken in genetic obesity cases with uncertain outcomes. The context is rapidly changing, as new innovative therapies are currently being tested both for syndromic and monogenic forms of obesity. This review focuses on care management and new therapeutic opportunities in genetic obesity, including the use of the melanocortin 4 agonist, setmelanotide. The results from ongoing trials will hopefully pave the way to a future precision medicine approach for genetic obesity.

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Babayan, M. L., and L. A. Kharitonova. "Syndromic obesity in children (using the example of clinical cases)." Experimental and Clinical Gastroenterology, no. 6 (October 22, 2024): 215–20. http://dx.doi.org/10.31146/1682-8658-ecg-226-6-215-220.

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Obesity is a heterogeneous group of hereditary and acquired diseases associated with excessive accumulation of adipose tissue in the body. One example of syndromic obesity in children is Bardet-Biedl syndrome. This is a rare autosomal recessive disease from the group of ciliopathies, characterized by retinal dystrophy, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The article presents two clinical cases of Bardet-Biedl syndrome. Diagnostic criteria for the disease are given, and the need for molecular genetic research methods in the early stages of the diagnostic search is shown. Promising directions in the treatment of the syndrome are considered.

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Kalinderi, Kallirhoe, Vasiliki Goula, Evdoxia Sapountzi, Vasiliki Rengina Tsinopoulou, and Liana Fidani. "Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment." Children 11, no. 2 (2024): 153. http://dx.doi.org/10.3390/children11020153.

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Obesity is a significant health problem with a continuously increasing prevalence among children and adolescents that has become a modern pandemic during the last decades. Nowadays, the genetic contribution to obesity is well-established. For this narrative review article, we searched PubMed and Scopus databases for peer-reviewed research, review articles, and meta-analyses regarding the genetics of obesity and current pharmacological treatment, published in the English language with no time restrictions. We also screened the references of the selected articles for possible additional articles in order to include most of the key recent evidence. Our research was conducted between December 2022 and December 2023. We used the terms “obesity”, “genetics”, “monogenic”, “syndromic”, “drugs”, “autosomal dominant”, “autosomal recessive”, “leptin-melanocortin pathway”, and “children” in different combinations. Recognizing the genetic background in obesity can enhance the effectiveness of treatment. During the last years, intense research in the field of obesity treatment has increased the number of available drugs. This review analyzes the main categories of syndromic and monogenic obesity discussing current data on genetic-based pharmacological treatment of genetic obesity and highlighting the necessity that cases of genetic obesity should follow specific, pharmacological treatment based on their genetic background.

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Milani, Donatella, Marta Cerutti, Lidia Pezzani, Pietro Maffei, Gabriella Milan, and Susanna Esposito. "Syndromic obesity: clinical implications of a correct diagnosis." Italian Journal of Pediatrics 40, no. 1 (2014): 33. http://dx.doi.org/10.1186/1824-7288-40-33.

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Walley, Andrew J., Julian E. Asher, and Philippe Froguel. "The genetic contribution to non-syndromic human obesity." Nature Reviews Genetics 10, no. 7 (2009): 431–42. http://dx.doi.org/10.1038/nrg2594.

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Abawi, Ozair, Emma C. Koster, Mila S. Welling, et al. "RF02 | PSAT110 Resting Energy Expenditure and Body Composition in Children and Adolescents with Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity." Journal of the Endocrine Society 6, Supplement_1 (2022): A639—A640. http://dx.doi.org/10.1210/jendso/bvac150.1323.

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Abstract Background Pediatric obesity is a multifactorial disease characterized by a prolonged imbalance between energy intake and expenditure. In rare cases, it is caused by underlying medical disorders arising from disruptions in the leptin-melanocortin pathway which regulates satiety and energy expenditure. Aim To investigate and compare resting energy expenditure (REE) and body composition characteristics of children and adolescents with severe obesity with and without underlying medical causes. Methods This prospective observational study included pediatric patients who underwent an extensive diagnostic workup in our academic center in which endocrine, non-syndromic and syndromic genetic, hypothalamic, and medication-induced causes of obesity were evaluated. Patients in whom no underlying medical cause was identified were classified as multifactorial obesity. REE was assessed by indirect calorimetry; body composition by air displacement plethysmography. The ratio measured REE (mREE) vs predicted REE (Schofield equations) was expressed as REE%, with decreased mREE defined as REE% ≤90% and elevated mREE as ≥110%. Additionally, the ratio mREE vs fat-free-mass (FFM) was calculated. Results We included 292 patients, of which 218 (75%) patients had multifactorial obesity and 74 (25%) had an underlying medical cause: non-syndromic and syndromic genetic (n= 29 and 28, respectively), hypothalamic (n= 10), and medication-induced (n= 7) obesity. Mean age was 10.8 ± 4.3 years, 59% were female, mean BMI SDS was 3.8 ± 1.1, indicating severe obesity. Mean REE% was higher in children with non-syndromic genetic obesity (107.4% ± 12.7) and lower in children with hypothalamic obesity (87.6% ± 14.2) compared to multifactorial obesity (100.5% ± 12.6, both p&lt;0.01). Measured REE was decreased in 60 (21%) patients (corresponding to an average overprediction of daily caloric needs of 341 kcal/day) and elevated in 69 (24%) patients. Only in hypothalamic obesity, a larger proportion of patients showed a decreased REE compared to multifactorial obesity (6/10 vs 41/218, p&lt;0.01). FFM was higher in children with non-syndromic obesity compared to multifactorial obesity (+7.5kg, p&lt;0.001), but lower in syndromic obesity (-5.2kg, p=0.03), hypothalamic obesity (-12.6kg, p&lt;0.001), and similar in medication-induced obesity (+1.5kg FFM, p=0.80). Mean mREE/FFM was 46.5 ± 10.6 kcal/day/kg FFM and did not differ between patients with underlying medical causes compared to multifactorial obesity (all p&gt;0.05). Conclusion In this cohort of children with severe obesity due to various etiologies, large inter-individual differences in mREE were found. Almost half of patients had decreased or elevated mREE. When relating mREE to FFM, no differences were found between children with underlying medical causes versus multifactorial obesity. Thus, our study underlines the importance of measuring REE and relating mREE to FFM in children with early-onset severe obesity with or without underlying medical causes. This knowledge is important for patient-tailored treatment, e.g. personalized dietary or physical activity interventions and consideration of pharmacotherapy affecting central energy expenditure regulation in children with decreased mREE. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m., Saturday, June 11, 2022 1:18 p.m. - 1:23 p.m., Saturday, June 11, 2022 1:18 p.m. - 1:23 p.m.

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Hwig, Nauras, Montserrat Diaz-Abad, Victor T. Peng, Jennifer Y. So, and Anayansi Lasso-Pirot. "Successful Treatment of Respiratory Failure in a Patient with Prader-Willi Syndrome with Noninvasive Ventilation with AVAPS." Case Reports in Medicine 2023 (April 18, 2023): 1–4. http://dx.doi.org/10.1155/2023/9925144.

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Prader-Willi syndrome (PWS) is the most prevalent syndromic form of obesity, which starts during early childhood in the setting of hyperphagia. Due to the development of obesity, there is a high prevalence of obstructive sleep apnea (OSA) among these patients. This case report presents a patient with PWS with morbid obesity, severe OSA, and obesity hypoventilation syndrome admitted to the hospital for hypoxemic and hypercapnic respiratory failure. Noninvasive ventilation (NIV) with average volume-assured pressure support, a newer NIV modality, was used successfully to treat this patient, achieving major clinical and gas exchange improvement both during the hospitalization and long term after discharge.

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Kuprienko, N. B., and N. N. Smirnova. "PHENOTYPES OF GENETICALLY DETERMINATED FORMS OF OBESITY." Pediatria. Journal named after G.N. Speransky 101, no. 2 (2022): 78–86. http://dx.doi.org/10.24110/0031-403x-2022-101-2-78-86.

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A review of domestic and foreign literature describes the phenotypes of genetically determined forms of obesity. Among non-syndromic monogenic forms of obesity, variants associated with mutations in the leptine and leptine receptors genes are particularly prominent. Several rare forms are caused by mutations in genes that regulate the development of the hypothalamus and central nervous system. Ciliary dysfunction is at the root of the group of hereditary disorders – ciliopathy, including Bardet–Biedl and Joubert syndromes and accompanied by varying degrees of obesity. The diagnostic criteria for the Prader–Willi, Bardet–Biedl, and Cohen syndromes are presented. It is noted that early onset of severe obesity and delayed mental development require timely genetic analysis and correction therapy.

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Jarrell, Jill Ann, Yin Zhou, and Kim Davis. "Efficacy of a Multi-Disciplinary Inpatient Obesity Treatment Program in Syndromic and Non-Syndromic Populations." Pediatrics 137, Supplement 3 (2016): 143A. http://dx.doi.org/10.1542/peds.137.supplement_3.143a.

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Pascut, Devis, Sofia Tamini, Silvia Bresolin, et al. "Differences in circulating microRNA signature in Prader–Willi syndrome and non-syndromic obesity." Endocrine Connections 7, no. 12 (2018): 1262–74. http://dx.doi.org/10.1530/ec-18-0329.

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Prader–Willi syndrome (PWS) represents the most common genetic-derived obesity disorder caused by the loss of expression of genes located on the paternal chromosome 15q11.2-q13. The PWS phenotype shows peculiar physical, endocrine and metabolic characteristics compared to those observed in non-syndromic essential obesity. Since miRNAs have now a well-established role in many molecular pathways, including regulatory networks related to obesity, this pilot study was aimed to characterize the expression of circulating miRNAs in PWS compared to essential obesity. The circulating miRNome of 10 PWS and 10 obese subjects, adequately matched for age, BMI and sex, was profiled throughout Genechip miRNA 4.0 microarray analysis. We identified 362 out of 2578 mature miRNAs to be expressed in serum of the studied population. The circulating miRNA signature significantly characterising the two populations include 34 differently expressed RNAs. Among them, miR-24-3p, miR-122 and miR-23a-3p highly differ between the two groups with a FC >10 in obese compared to PWS. In the obese subjects, miR-7107-5p, miR-6880-3p, miR-6793-3p and miR-4258 were associated to the presence of steatosis. A different signature of miRNAs significantly distinguished PWS with steatosis from PWS without steatosis, involving miR-619-5p, miR-4507, miR-4656, miR-7847-3p and miR-6782-5p. The miRNA target GO enrichment analysis showed the different pathway involved in these two different forms of obesity. Although the rarity of PWS actually represents a limitation to the availability of large series, the present study provides novel hints on the molecular pathogenesis of syndromic and non-syndromic obesity.

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Shaw, SubhashChandra, Ankur Rawat, Suprita Kalra, and Rakesh Gupta. "Prader–Willi syndrome: A syndromic cause of morbid obesity." Journal of Marine Medical Society 20, no. 1 (2018): 76. http://dx.doi.org/10.4103/jmms.jmms_69_17.

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Kehinde, Tawakalitu Abosede, Alisha Bhatia, Bukola Olarewaju, Muhammad Zain Shoaib, Jehan Mousa, and Mayowa Azeez Osundiji. "Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions." European Journal of Medical Genetics 65, no. 3 (2022): 104443. http://dx.doi.org/10.1016/j.ejmg.2022.104443.

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Geets, E., M. E. C. Meuwissen, and W. Van Hul. "Clinical, molecular genetics and therapeutic aspects of syndromic obesity." Clinical Genetics 95, no. 1 (2018): 23–40. http://dx.doi.org/10.1111/cge.13367.

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Alqahtani, Aayed R., Mohamed Elahmedi, and Yara A. Alqahtani. "Bariatric surgery in monogenic and syndromic forms of obesity." Seminars in Pediatric Surgery 23, no. 1 (2014): 37–42. http://dx.doi.org/10.1053/j.sempedsurg.2013.10.013.

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Koves, Ildiko H., and Christian Roth. "Genetic and Syndromic Causes of Obesity and its Management." Indian Journal of Pediatrics 85, no. 6 (2017): 478–85. http://dx.doi.org/10.1007/s12098-017-2502-2.

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Starzyk, Agnieszka, and Piotr Charzewski. "Understanding Obesity and the Role of Pharmacological Treatments: Insights for Health and Fitness Enthusiasts." Quality in Sport 38 (February 7, 2025): 58211. https://doi.org/10.12775/qs.2025.38.58211.

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Obesity results from disruptions in the regulation of body weight, driven by complex interactions between genetic and environmental factors. Genetic forms, such as monogenic and syndromic obesity, are rare but severe conditions often presenting with early-onset obesity, eating disorders, and a range of comorbidities. These forms of obesity pose significant challenges to treatment and health management. While historically managed through lifestyle interventions, recent advances in targeted therapies, including GLP-1 receptor agonists, MC4R agonists, and other pharmacological options, have shown significant potential in addressing genetic and syndromic obesity. These treatments, when combined with lifestyle modifications and surgical interventions, represent a step forward in improving health outcomes and quality of life for affected individuals. The integration of genetic diagnostics into clinical practice is critical to identifying appropriate candidates for these therapies and personalizing treatment plans to address the heterogeneous nature of obesity. Continued research into the molecular mechanisms and biomarkers of obesity is essential for refining these strategies, ensuring equitable access, and ultimately reducing the global health burden of obesity.

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Micleaa, Diana, Camelia Al-Khzouza, Sergiu Osan, et al. "Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability." Journal of Pediatric Endocrinology and Metabolism 32, no. 7 (2019): 667–74. http://dx.doi.org/10.1515/jpem-2018-0439.

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Abstract Background Obesity with developmental disability/intellectual disability (DD/ID) is the most common association in syndromic obesity. Genomic analysis studies have allowed the decipherment of disease aetiology, both in cases of syndromic obesity as well as in cases of isolated or syndromic DD/ID. However, more data are needed to further elucidate the link between the two. The aim of this pangenomic study was to use single nucleotide polymorphism (SNP) array technology to determine the copy number variant (CNV) type and frequency associated with both obesity and DD/ID. Methods Thirty-six patients were recruited from the Clinical Emergency Hospital for Children, in Cluj-Napoca, Romania during the period 2015–2017. The main inclusion criterion was a diagnosis that included both obesity and DD/ID. Genomic analysis via SNP array technology was performed. Results Out of the 36 patients, 12 (33%) presented CNVs with a higher degree of pathogenicity (A group) and 24 (66%) presented benign CNVs (B group). The SNP array results for the A group were as follows: pathogenic CNVs in 8/12 patients (67%); variants of unknown significance (VOUS) in 2/12 patients (16%); and uniparental disomy (UPD) in 2/12 patients (16%). Conclusions Some of these CNVs have already been observed in patients with both obesity and DD/ID, but the others were noticed only in DD/ID patients and have not been described until now in association with obesity.

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Serra-Juhé, Clara, Gabriel Á. Martos-Moreno, Francesc Bou de Pieri, et al. "Heterozygous rare genetic variants in non-syndromic early-onset obesity." International Journal of Obesity 44, no. 4 (2019): 830–41. http://dx.doi.org/10.1038/s41366-019-0357-5.

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Gupta, Neerja, and Vandana Jain. "Prader Willi Syndrome – A Common Epigenetic Cause of Syndromic Obesity." Indian Journal of Pediatrics 84, no. 11 (2017): 809–10. http://dx.doi.org/10.1007/s12098-017-2512-0.

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Tkachuk, E. A., I. Yu Tarmaeva, and M. S. Soshina. "Molecular and genetic mechanisms of obesity: types of disruptions and their role in the development of new diagnostic methods." Voprosy detskoj dietologii 22, no. 5 (2024): 54–64. https://doi.org/10.20953/1727-5784-2024-5-54-64.

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This article presents the analysis of molecular and genetic causes of obesity on the example of syndromic and monogenic obesity. The genes underlying the development of obesity are given, and the pathophysiological mechanisms of disruptions in the appearance of mutations in these genes are analyzed. The known mechanisms of obesity are grouped by biochemical disorders in the cell. Defects in cilium structure and associated cell transport and migration; dysregulation in cell signaling pathways within and between cells; dysregulation in transcription, translation, expression, and maturation of biomolecules; defects in biomolecule transport; and energy metabolism disorder are highlighted. All this suggests the possibility of developing not only pathogenetic treatment of obesity based on the normalization of gene product functioning according to the type of disruption, but also a personalized approach to the correction of lifestyle and nutrition, considering the multifactorial pattern of the disease and a certain type of metabolic disorder. Key words: obesity, syndromic obesity, monogenic obesity, BBS, ARL6, INPP5E, CEP19, CEP290, ALSM1, RAI1, BDNF, GHR, SH2B1, KCTD13, GNAS, GPC3, KSR2, LEP, LEPR, MC4R, NTRK2, POMC, PRKAR1A, SDCCAG8, TMEM18, WNT10B, AFF4, WT1, PAX6, PHF6, SIM1, PCSK1, ATRX, VPS13B, RAB23, FMRP, ADCY3, ADIPOQ, FTO, INSIG2

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Kanitkar, Shubhangi, Sai Priya Ande, Sachin K. Shivnitwar, and Manaswini Edara. "Delayed identification of Bardet-Biedl syndrome." BMJ Case Reports 17, no. 11 (2024): e261843. http://dx.doi.org/10.1136/bcr-2024-261843.

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Bardet-Biedl syndrome is a central obesity syndrome with a hereditary link affecting non-motile cilia that can be diagnosed clinically. Central obesity and polydactyly are important phenotypic features of this syndrome. Most cases are identified in early childhood. The report discusses the retrospective diagnosis of Bardet-Biedl syndrome in a heart failure patient. On examination, the patient revealed central obesity, polydactyly, retinitis pigmentosa and an atrial septal defect. The involvement of multiple systems with phenotypic traits resulted in a syndromic association. The woman was treated conservatively for her symptoms with diuretics. Past hospital visits by the patient overlooked the diagnosis of Bardet-Biedl syndrome. This syndrome is diagnosed using the criteria established by Beales and colleagues. Although specific management strategies for treating the syndrome have yet to be proposed, diagnosis aids in genetic counselling for affected couples, metabolic syndrome management, blindness rehabilitation and early detection of organ damage, allowing for adequate follow-up.

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Farella, Ilaria, Mariangela Chiarito, Rossella Vitale, Gabriele D’Amato, and Maria Felicia Faienza. "The “Burden” of Childhood Obesity on Bone Health: A Look at Prevention and Treatment." Nutrients 17, no. 3 (2025): 491. https://doi.org/10.3390/nu17030491.

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Childhood obesity represents a multifaceted challenge to bone health, influenced by a combination of endocrine, metabolic, and mechanical factors. Excess body fat correlates with an increase in bone mineral density (BMD) yet paradoxically elevates fracture risk due to compromised bone quality and increased mechanical loading on atypical sites. Additionally, subjects with syndromic obesity, as well as individuals with atypical nutritional patterns, including those with eating disorders, show bone fragility through unique genetic and hormonal dysregulations. Emerging evidence underscores the adverse effects of new pharmacological treatments for severe obesity on bone health. Novel drugs, such as glucagon-like peptide-1 (GLP-1) receptor agonists, and bariatric surgery demonstrate potential in achieving weight loss, though limited evidence is available regarding their short- and long-term impacts on skeletal health. This review provides a comprehensive analysis of the mechanisms underlying the impact of childhood obesity on bone health. It critically appraises evidence from in vitro studies, animal models, and clinical research in children with exogenous obesity, syndromic obesity, and eating disorders. It also explores the effects of emerging pharmacological and surgical treatments for severe obesity on skeletal integrity, highlights prevention strategies, and identifies research gaps.

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Priyambada, Priya, Krishna Joshi, and Brucu Ozdemeir. "Hyperostosis frontalis interna (HFI): A case report and review of literature." Case Reports in Internal Medicine 4, no. 1 (2017): 57. http://dx.doi.org/10.5430/crim.v4n1p57.

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Hyperostosis frontalis interna (HFI) is characterized by excess growth of the frontal bone. Although the exact cause of HFI is not known, it has been found to be associated with increased age, prolonged estrogen stimulation and elevated leptin. Literature shows its association with seizure, dementia, obesity, headache and endocrine abnormalities. HFI may be syndromic and non-syndromic. Timely identification of HFI can prevent unnecessary diagnostic tests. We report a case of non-syndromic HFI in an elderly female who presented with headache.

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Hoseini Nouri, Seyyedeh Azade, Manijeh Tabrizi, Marjaneh Zarkesh, et al. "Management of Obesity in Children: A Narrative Review." Journal of Pediatrics Review 10, no. 4 (2022): 287–96. http://dx.doi.org/10.32598/jpr.10.4.584.5.

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Background and Objectives: Over the past three decades, the prevalence of overweight and obesity in children and adolescents has increased up to 3 times. Obesity is a multi-systemic medical problem affecting all socioeconomic statuses and increases the risk of other severe comorbidities even in childhood. In 50% of cases, there is a persistence of obesity from childhood into adulthood. This narrative review aimed to define the etiology, risk factors, prevention, and management of obesity in children. Methods: This narrative review was conducted through a literature search on articles in English with the keywords of pediatric obesity, child, overweight, and bariatric surgery in PubMed, Scopus, ISI Web of Sciences, Cochrane, and EMBASE databases from 2001 to 2021 for 4 categories of etiology, risk factors, prevention, and management of obesity in children. Scientific articles, systematic reviews, meta-analyses, consensus, recommendations, and international and national guidelines published on pediatric obesity were considered. Results: In this narrative review, we first assessed relevant articles to define childhood obesity and mention its etiologies. We then discussed the probability of persistent obesity from childhood into adulthood and intergenerational and perinatal transmission risks. We also noticed syndromic obesity, evaluation of childhood obesity, and its complications along with medical/surgical interventions. Conclusions: Metabolic programming in particular periods of life, such as before and during pregnancy, infancy, and at the age of rebound adiposity (5.5 years old), is necessary to prevent childhood obesity. Lifestyle changes, diet modifications, promoting exclusive breastfeeding, and increased activity are the main principles of preventing and managing obesity. It is prudent to rule out syndromic and endocrinologic causes of obesity in suspicious patients along with their management.

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Tocan, Vlad, Akari Nakamura-Utsunomiya, Yuri Sonoda, et al. "High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome." International Journal of Molecular Sciences 25, no. 5 (2024): 2820. http://dx.doi.org/10.3390/ijms25052820.

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Severe obesity in young children prompts for a differential diagnosis that includes syndromic conditions. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome is a potentially fatal disorder characterized by rapid-onset obesity associated with hypoventilation, neural crest tumors, and endocrine and behavioral abnormalities. The etiology of ROHHAD syndrome remains to be established, but recent research has been focusing on autoimmunity. We report on a 2-year-old girl with rapid-onset obesity during the first year of life who progressed to hypoventilation and encephalitis in less than four months since the start of accelerated weight gain. The patient had a high titer of anti-ZSCAN1 antibodies (348; reference range < 40), and the increased values did not decline after acute phase treatment. Other encephalitis-related antibodies, such as the anti-NDMA antibody, were not detected. The rapid progression from obesity onset to central hypoventilation with encephalitis warns about the severe consequences of early-onset ROHHAD syndrome. These data indicate that serial measurements of anti-ZSCAN1 antibodies might be useful for the diagnosis and estimation of disease severity. Further research is needed to determine whether it can predict the clinical course of ROHHAD syndrome and whether there is any difference in antibody production between patients with and without tumors.

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Turkyilmaz, Ayberk, Erdal Kurnaz, and Atilla Cayir. "First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly." Molecular Syndromology 12, no. 4 (2021): 258–62. http://dx.doi.org/10.1159/000515400.

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Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and understanding cause-effect relationships. Some cases have ID as the only finding and are called isolated cases. Conversely, cases accompanied by facial dysmorphism, microcephaly, autism spectrum disorder, epilepsy, obesity, and congenital anomalies are called syndromic developmental delay (DD)/ID. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Genetic etiology can be detected in approximately 40% of the cases, whereas chromosomal abnormalities are observed in 25%. Obesity is a multifactorial disease in which both genetic and environmental factors play important roles. The role of heredity in obesity has been reported to be between 40 and 70%. Array-based comparative genomic hybridization (array-CGH) can detect CNVs in the whole genome at a higher resolution than conventional cytogenetic methods. Array-CGH is currently recommended as the first-tier genetic test for ID cases worldwide. In the present study, we aimed to evaluate clinical, radiological, and genetic analyses of a 12-year and 4-month-old girl with microcephaly, ID, and obesity. In the array-CGH analysis, a 3.1-Mb deletion, arr[GRGh37] 10q23.31g23.33 (92745793_95937944)×1 was detected, and this alteration was evaluated to be pathogenic. We consider that haploinsufficiency of the candidate genes (GPR120, KIF11, EXOC6, CYP26A1, CYP26C1, and LGI1) in the deletion region may explain microcephaly, ID, obesity, seizures, and ophthalmological findings in our patient. The investigation of 10q23.31q23.33 microdeletion in cases with syndromic obesity may contribute to molecular genetic diagnosis.

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Martínez-Hernández, Alfredo, Luís Enríquez, María Jesús Moreno-Moreno, and Amelia Martí. "Genetics of obesity." Public Health Nutrition 10, no. 10A (2007): 1138–44. http://dx.doi.org/10.1017/s1368980007000626.

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AbstractObjectiveThe aim was to review and update advances in genetics of obesity.DesignAnalysis and interpretation of recent investigations about regulating the energy balance as well as about gene-nutrient interactions and current nutrigenomic research methods.Background and main statementsObesity results from a long-term positive energy balance. However, its rising prevalence in developed and developing societies must reflect lifestyle changes, since genetic susceptibility remains stable over many generations. Like most complex diseases, obesity derives from a failure of adequate homoeostasis within the physiological system controlling body weight. The identification of genes that are involved in syndromic, monogenic and polygenic obesity has seriously improved our knowledge of body weight regulation. This disorder may arise from a deregulation at the genetic level (e.g. gene transcription or altered protein function) or environmental exposure (e.g. diet, physical activity, etc.).ConclusionsIn practice, obesity involves the interaction between genetic and environmental factors.

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Malhotra, Sonali, Ramya Sivasubramanian, and Gitanjali Srivastava. "Evaluation and Management of Early Onset Genetic Obesity in Childhood." Journal of Pediatric Genetics 10, no. 03 (2021): 194–204. http://dx.doi.org/10.1055/s-0041-1731035.

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AbstractOne in five children and adolescents in the United States are diagnosed with obesity and nearly 6% of them are being classified under the severe obesity category. With over 7% of severe obesity being attributed to genetic disorders, in this review we aim to focus on monogenic and syndromic obesity: its etiology, wide spectrum of clinical presentation, criticalness of early identification, and limited management options. Advanced genetic testing methods including microarray and whole genome sequencing are imperative to identify the spectrum of mutations and develop targeted treatment strategies including personalized multidisciplinary care, use of investigational drugs, and explore surgical options in this unique subset of severe pediatric obesity.

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EzhilVendhan, Dr K., Dr Kamala Balakrishnan, Dr Aparajita Gautam, and Dr Harshitha S. Logesh. "Laurence Moon Bardet Biedl Syndrome with Atypical Syndromic Retinitis Pigmentosa-A Rare Case Report." Scholars Journal of Medical Case Reports 9, no. 11 (2021): 1109–12. http://dx.doi.org/10.36347/sjmcr.2021.v09i11.018.

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Laurence Moon Bardet Biedl syndrome is a rare autosomal recessive condition listed in the NORD (National Organisation for Rare Disorders) with only less than 15 cases reported all over India, affects children born to consanguineous parents. Early onset retinal dystrophy, obesity, limb abnormalities, mental retardation, hypogonadism, and renal illness being a few symptoms. Here is a case of 19-year-old male with this rare genetic disorder who presented with complaints of night blindness and defective vision since 2 years. On ocular examination both eye fundus showed atypical retinitis pigmentosa. On systemic examination patient had central obesity, polydactyly, mental retardation, hypogonadism, speech disorder, developmental delay and ataxia.

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Murphy, Rinki, Richard W. Carroll, and Jeremy D. Krebs. "Pathogenesis of the Metabolic Syndrome: Insights from Monogenic Disorders." Mediators of Inflammation 2013 (2013): 1–15. http://dx.doi.org/10.1155/2013/920214.

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Identifying rare human metabolic disorders that result from a single-gene defect has not only enabled improved diagnostic and clinical management of such patients, but also has resulted in key biological insights into the pathophysiology of the increasingly prevalent metabolic syndrome. Insulin resistance and type 2 diabetes are linked to obesity and driven by excess caloric intake and reduced physical activity. However, key events in the causation of the metabolic syndrome are difficult to disentangle from compensatory effects and epiphenomena. This review provides an overview of three types of human monogenic disorders that result in (1) severe, non-syndromic obesity, (2) pancreatic beta cell forms of early-onset diabetes, and (3) severe insulin resistance. In these patients with single-gene defects causing their exaggerated metabolic disorder, the primary defect is known. The lessons they provide for current understanding of the molecular pathogenesis of the common metabolic syndrome are highlighted.

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Ladha, Farah, Stephanie Sisley, and Claudia Soler-Alfonso. "P219: Diagnostic yield of genetic testing for non-syndromic early-onset obesity in a multidisciplinary pediatric obesity clinic." Genetics in Medicine Open 1, no. 1 (2023): 100247. http://dx.doi.org/10.1016/j.gimo.2023.100247.

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Stafie, Ingrid-Ioana, Maria-Magdalena Leon, Alexandra Maștaleru, Irina Mihaela Abdulan, Alexandru Dan Costache, and Florin Mitu. "Cardiovascular Characteristics in Patients with Prader-Willi Syndrome." Internal Medicine 21, no. 1 (2024): 49–56. http://dx.doi.org/10.2478/inmed-2024-0277.

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Abstract The most prevalent type of syndromic obesity is referred to as Prader-Willi Syndrome (PWS), being determined by the lack of expression of paternal genes on chromosome 15q11.2-q13 due to genomic or epigenetic variations, such as DNA and histone methylation or acetylation. The syndrome is frequently associated with behavioral disorders, intellectual deficiencies, short stature, polyphagia, hypogonadism and muscular hypotonia, all stemming from the multiple endocrine dysfunctions characterizing this condition. Cardiovascular (CV) anomalies can manifest even in the early stages of life, and those with PWS have an elevated risk of early onset cardiovascular diseases. The somatic and behavioral aspects of the syndrome interact intricately to cause this increased risk for CV pathologies. Changes in the GH-IGF axis are seen in most Prader-Willi Syndrome (PWS) patients, irrespective of obesity. Specific cardiovascular features of GHD in adult PWS patients include reduced cardiac mass, decreased ejection fraction, and diminished chronotropic response to dobutamine.

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Luppino, Giovanni, Malgorzata Wasniewska, Mara Giordano, et al. "Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation." Genes 16, no. 5 (2025): 588. https://doi.org/10.3390/genes16050588.

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Background: Single-minded homolog 1 (SIM1) gene mutations with autosomal dominant inheritance have been related to hyperphagia and early-onset severe obesity. SIM1 is implicated in the development of hypothalamic nuclei, which play a crucial role in energy homeostasis. The development of melanocortin neural circuits in the hypothalamus is promoted by other factors such as Semaphorine 3 (SEMA3) and its receptors, such as PLXNA1-4 and NRP1-2. Loss-of-function across multiple SEMA3/NRP/PLXNA genes can collectively contribute to obesity onset. Case Description: A 3-year-old male was referred for the first time to Outpatient pediatric endocrinology due to early-onset and progressive severe obesity and hyperphagia. He presented neurobehavior disorders and partial diabetes insipidus. At age 6, the child was diagnosed with obesity-related complications, including hyperinsulinemia, impaired glucose tolerance, hypercholesterolemia, hepatic steatosis, and hypovitaminosis. The NGS analysis revealed four variants related to obesity: SIM1, SEMA3C, PLXNA4, and CREBBP gene mutations. Conclusions: The case presents the association of SIM-1 gene mutation with other obesity-related variants. The interactive and cumulative effects of the identified variants could coexist in the determination of severe obesity through abnormalities in the development and function of hypothalamic melanocortin circuits related to energy homeostasis. Although the pathogenic mutation of the SIM1 gene plays the main role, the complex clinical picture may be related to the possible cumulative effect of the other genetic mutations.

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Pratama, Muhammad Yogi, Devis Pascut, Sofia Tamini, et al. "Circulating microRNA Associated to Different Stages of Liver Steatosis in Prader–Willi Syndrome and Non-Syndromic Obesity." Journal of Clinical Medicine 9, no. 4 (2020): 1123. http://dx.doi.org/10.3390/jcm9041123.

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Background: Prader–Willi syndrome (PWS) is a rare and poorly characterized disease. Recent genomic and transcriptomic studies contributed to elucidate the molecular bases of the syndrome. In this study, we characterized the expression of circulating miRNAs in patients with PWS compared to those with non-syndromic obesity in association with liver steatosis. Methods: MiRNAs were studied by qRT-PCR in serum samples from 30 PWS and 30 non-syndromic obese subjects. Results: MiRNA expression was associated with the presence of the syndrome and to the grade of liver steatosis. MiR-122-5p, miR-151a, miR-92a-3p were up-regulated in obese (4.38-fold, p < 0.01; 2.72-fold, p < 0.05; 1.34-fold p < 0.05, respectively) and were able to differentiate obese from PWS (AUC = 0.81, sens/spec 78/71%). When stratifying groups according to the presence of steatosis, the expression of miR-151a-5p, miR-92a-3p, miR-106b-5p, and miR-93-5p were lower in PWS with steatosis grade 1. Within the group with steatosis grade 1, miR-151a-5p was significantly distinguished PWS from obese (AUC = 0.85, sens/spec 80/85%) and the combination of miR-106b-5p and miR-93-5p showed higher performances in discriminating different grades of steatosis in PWS (AUC = 0.84, sens/spec 93/74%). Conclusions: MiRNAs represent a tool to better classify and characterize PWS, providing new information about the clinical picture and the extent of steatosis.

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Bajpai, Anurag. "Early Onset Non-Syndromic Obesity- Is Next Generation Sequencing the Next in Agenda?" Indian Journal of Pediatrics 87, no. 2 (2020): 93. http://dx.doi.org/10.1007/s12098-019-03175-0.

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Goldstone, Anthony, Elmas Nazl Gonc, Melania Manco, et al. "P349: Frequency of rare syndromic diseases in a population with early-onset obesity." Genetics in Medicine Open 3 (2025): 102314. https://doi.org/10.1016/j.gimo.2025.102314.

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Akıncı, Ayşehan, Doğa Türkkahraman, İbrahim Tekedereli, et al. "Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study." Journal of Clinical Research in Pediatric Endocrinology 11, no. 4 (2019): 341–49. http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0021.

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Dehghan, Roghayeh, Mahdiyeh Behnam, Mansoor Salehi, and Roya Kelishadi. "Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome." Case Reports in Ophthalmological Medicine 2022 (July 21, 2022): 1–6. http://dx.doi.org/10.1155/2022/6110775.

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Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet–Biedl syndrome (BBS). In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and two novel nonsense variants in MKKS (c.1196T>G, p.L399X) and BBS7 genes (c.1636C>T, p.Q546X). In the other child, no mutations were detected in known genes for BBS. However, we identified a novel variant in the ALMS1 gene (c.10996delC, p.Q3666fs) indicative of Alström syndrome. All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. In conclusion, our results not only expand the spectrum of mutations in BBS and ALMS1 genes but also accentuate the importance of genetic testing for differentiating BBS from Alström syndrome.

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Minniakhmetov, Ildar R., Rita I. Khusainova, Olga V. Vasyukova, et al. "Molecular Genetic Architecture of Morbid Obesity in Russian Children." Biomedicines 13, no. 3 (2025): 756. https://doi.org/10.3390/biomedicines13030756.

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Background: Over the past few decades, the prevalence of obesity has significantly increased worldwide, particularly among children. This trend represents a global health challenge. Considering the pivotal role of obesity in the development of metabolic disorders, the identification and characterization of pathogenic gene variants in children with severe forms of obesity are key priorities in fundamental endocrinology. Methods: We performed whole-exome sequencing (WES) in 163 Russian children with morbid obesity and identified 96 pathogenic or likely pathogenic variants in 61 genes. These variants were clinically significant in 64 children (38.79% of the cohort). Results: Notably, 42 of the identified variants have not been previously described in the literature or reported in existing databases. Conclusions: The findings of this study will enable a more personalized approach to the diagnosis and treatment of patients with syndromic and polygenic forms of obesity. Moreover, these results advance our understanding of the genetic architecture of obesity in the Russian population.

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Abbas, Alaa, Ayat S. Hammad, Zain Z. Zakaria, Maha Al-Asmakh, Khalid Hussain, and Mashael Al-Shafai. "gnas Knockdown Induces Obesity and AHO Features in Early Zebrafish Larvae." International Journal of Molecular Sciences 25, no. 23 (2024): 12674. http://dx.doi.org/10.3390/ijms252312674.

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GNAS (Guanine Nucleotide-Binding Protein, Alpha Stimulating) is a complex gene that encodes the alpha subunit of the stimulatory G protein (Gsα), critical for signaling through various G protein-coupled receptors. Inactivating genetic and epigenetic changes in GNAS, resulting in Gsα deficiency, cause different variants of pseudohypoparathyroidism, which may manifest features of Albright hereditary osteodystrophy (AHO, a syndrome characterized by early-onset obesity and other developmental defects). Recent findings have linked Gsα deficiency with isolated, severe, early-onset obesity, suggesting it as a potential, underrecognized cause of monogenic, non-syndromic obesity. This study was prompted by identifying several GNAS variants of uncertain significance (VUSs) in pediatric patients presenting with unexplained, severe, early-onset obesity at Sidra Medicine in Qatar. To functionally characterize these variants, we developed the first zebrafish model of Gsα deficiency, offering numerous advantages over other model systems. This was achieved by knockdown of the ortholog through microinjection of translation-blocking Morpholino antisense oligonucleotides into the yolks of 1-8-cell-stage zebrafish embryos. The morphant larvae displayed an obese phenotype, marked by significantly enlarged yolk sacs, increased neutral lipid accumulation, and reduced metabolic rates, among other developmental abnormalities resembling those in AHO. This zebrafish model lays the foundation for efficient functional characterization of GNAS VUSs and paves the way for enhancing our understanding of Gsα deficiency-associated early-onset obesity.

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Cowen, Neil, and Anish Bhatnagar. "The Potential Role of Activating the ATP-Sensitive Potassium Channel in the Treatment of Hyperphagic Obesity." Genes 11, no. 4 (2020): 450. http://dx.doi.org/10.3390/genes11040450.

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To evaluate the potential role of ATP-sensitive potassium (KATP) channel activation in the treatment of hyperphagic obesity, a PubMed search was conducted focused on the expression of genes encoding the KATP channel, the response to activating the KATP channel in tissues regulating appetite and the establishment and maintenance of obesity, the evaluation of KATP activators in obese hyperphagic animal models, and clinical studies on syndromic obesity. KATP channel activation is mechanistically involved in the regulation of appetite in the arcuate nucleus; the regulation of hyperinsulinemia, glycemic control, appetite and satiety in the dorsal motor nucleus of vagus; insulin secretion by β-cells; and the synthesis and β-oxidation of fatty acids in adipocytes. KATP channel activators have been evaluated in hyperphagic obese animal models and were shown to reduce hyperphagia, induce fat loss and weight loss in older animals, reduce the accumulation of excess body fat in growing animals, reduce circulating and hepatic lipids, and improve glycemic control. Recent experience with a KATP channel activator in Prader–Willi syndrome is consistent with the therapeutic responses observed in animal models. KATP channel activation, given the breadth of impact and animal model and clinical results, is a viable target in hyperphagic obesity.

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Cormier-Daire, V. "Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?" Journal of Medical Genetics 40, no. 4 (2003): 300–303. http://dx.doi.org/10.1136/jmg.40.4.300.

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Iossa, Angelo, Francesco De Peppo, Romina Caccamo, et al. "Laparoscopic sleeve gastrectomy in adolescents with or without syndromic obesity: two years follow-up." Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity 23, no. 4 (2017): 479–86. http://dx.doi.org/10.1007/s40519-016-0348-7.

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Sridhar, Subbiah, Sengottaiyan Palanivel, Jayachandran Senthilkumar, et al. "Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre." Indian Journal of Endocrinology and Metabolism 29, no. 1 (2025): 89–94. https://doi.org/10.4103/ijem.ijem_278_24.

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Abstract Introduction: Bardet–Biedl syndrome (BBS-OMIM 209900) is a rare genetic multi-system obesity syndrome with limited case reports from India. We describe a case series of BBS with varied clinical presentation and their co-morbidities. Methods: BBS was diagnosed based on the clinical criteria by Beales et al. Their clinical presentations including the presence of primary and secondary features, metabolic profile, and systemic complications were examined. Results: Eleven cases of BBS were analyzed over 9 years, of which the most common primary clinical manifestations were post-axial polydactyly and learning disabilities, noted in all individuals (100%). Retinitis pigmentosa and truncal obesity were present in 91% (10 out of 11). Clinical and biochemical features of hypogonadism and genital abnormalities were observed in 73% of individuals. Craniofacial dysmorphism and developmental delay were the more commonly observed secondary features, observed in 91%. Speech delay and brachydactyly/syndactyly were present in 73% of cases. Hyperactive behavioural disturbances and diabetes mellitus were noted in 45% and 18% of cases, respectively. Cataracts, hypertonia, dental malocclusion and cardiac anomalies (dextrocardia) were each observed in just one patient among the study population of 11 patients. The molecular genetics were analysed in two individuals. Conclusion: BBS is an extremely rare clinical syndrome with clinical heterogeneity at presentation. The appropriate diagnosis of syndromic obesity and an early multi-disciplinary intervention may improve their quality of life.

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El Brini, Otmane, Omar Akhouayri, and Bouchra Benazzouz. "Metabolic Syndrome and Menopause are correlated in Moroccan women population." E3S Web of Conferences 319 (2021): 01058. http://dx.doi.org/10.1051/e3sconf/202131901058.

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Background: Metabolic syndrome is a cluster of metabolic risk factors for type 2 diabetes mellitus and cardiovascular diseases. Physiological variations occurring in women during menopause are thought to be a predisposing factor for the metabolic syndrome. The aim of this study was to evaluate the prevalence of metabolic syndrome and its individual components according to menopausal status in a sample of Moroccan women. Methods: We analyzed data of 653 women aged 19 years and older. We used the recently published joint interim statement criteria to classify subjects as having metabolic syndrome. Results: Out of the total subjects, 262 (40.12%) were syndromic. The metabolic syndrome and abdominal obesity were more common in postmenopausal than in premenopausal women. The highest prevalence of metabolic syndrome was observed in menopausal transition especially among women aged 49-52 years (62.59%). During this period, half of women have at least three metabolic syndrome risk factors. Conclusion: Abdominal obesity associated with metabolic changes occurring in menopause was a risk factor for the development of metabolic syndrome in women. There is a need to adopt a healthy lifestyle to prevent weight gain in women. This can minimize the incidence of metabolic syndrome and its consequences as type 2 diabetes and cardiovascular diseases.

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Journal articles on the topic 'Syndromic obesity'

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