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1

Arnold, Amy C., Emily M. Garland, Jorge E. Celedonio та ін. "Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency". Journal of Clinical Endocrinology & Metabolism 102, № 1 (2016): 10–14. http://dx.doi.org/10.1210/jc.2016-3274.

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Abstract Context: Dopamine β-hydroxylase (DBH) deficiency is a rare genetic disorder characterized by failure to convert dopamine to norepinephrine. DBH-deficient patients lack sympathetic adrenergic function and are therefore predisposed to orthostatic hypotension. DBH-deficient mice exhibit hyperinsulinemia, lower plasma glucose levels, and insulin resistance due to loss of tonic sympathetic inhibition of insulin secretion. The impact of DBH deficiency on glucose homeostasis in humans is unknown. Case Description: We describe the metabolic profile of an adolescent female DBH-deficient patien
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2

Gutiérrez-Fernández, Diego, Álvaro Moreno-Ancillo, Antonio Foncubierta-Fernández, Isabel López-Martínez, Alfonso Lechuga-Sancho, and María José Fernández-Anguita. "Desensitization to mecasermin in an insulin-like growth factor 1–deficient patient." Annals of Allergy, Asthma & Immunology 114, no. 6 (2015): 523–25. http://dx.doi.org/10.1016/j.anai.2015.03.004.

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3

Paz-Filho, Gilberto, Karin Esposito, Barry Hurwitz, et al. "Changes in insulin sensitivity during leptin replacement therapy in leptin-deficient patients." American Journal of Physiology-Endocrinology and Metabolism 295, no. 6 (2008): E1401—E1408. http://dx.doi.org/10.1152/ajpendo.90450.2008.

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Leptin replacement rescues the phenotype of morbid obesity and hypogonadism in leptin-deficient adults. However, leptin's effects on insulin resistance are not well understood. Our objective was to evaluate the effects of leptin on insulin resistance. Three leptin-deficient adults (male, 32 yr old, BMI 23.5 kg/m2; female, 42 yr old, BMI 25.1 kg/m2; female, 46 yr old, BMI 31.7 kg/m2) with a missense mutation of the leptin gene were evaluated during treatment with recombinant methionyl human leptin (r-metHuLeptin). Insulin resistance was determined by euglycemic hyperinsulinemic clamps and by or
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4

Hawari, Iman, Johan Ericsson, Basirudeen Syed Ahamed Kabeer, et al. "Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient." Biology 11, no. 4 (2022): 612. http://dx.doi.org/10.3390/biology11040612.

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The scope of this study is to show that DM in a LRBA-deficient patient with a stop codon mutation (c.3999 G > A) was not mediated through autoimmunity. We have evaluated the ability of the proband’s T cells to be activated by assessing their CTLA-4 expression. A nonsignificant difference was seen in the CTLA-4 expression on CD3+ T cells compared to the healthy control at basal level and after stimulation with PMA/ionomycin. Blood transcriptomic analysis have shown a remarkable increase in abundance of transcripts related to CD71+ erythroid cells. There were no differences in the expression
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5

Ashraf, Soliman, Alyafei Fawzia, De Sanctis Vincenzo, et al. "The impact of growth hormone (GH) therapy on glucose metabolism: A narrative review mainly focused on GH-deficient (GHD) children and adolescents." World Journal of Advanced Research and Reviews 22, no. 1 (2024): 627–36. https://doi.org/10.5281/zenodo.14209105.

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<strong>Introduction</strong>: Growth hormone (GH) deficiency (GHD) in children and adolescents is traditionally managed with GH therapy, which, while effective for promoting growth, poses potential metabolic repercussions, particularly concerning glucose metabolism. This review delineates the complex interplay between GH therapy, insulin sensitivity, and glucose homeostasis. <strong>Objective</strong>: To synthesize existing literature on the effects of GH therapy on glucose metabolism, insulin secretion, and insulin sensitivity in GH-deficient pediatric populations, aiming to illuminate the
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6

Radicioni, Antonio F., Matteo Spaziani, Gilda Ruga, et al. "Growth Hormone Deficiency During the Transition Phase." US Endocrinology 08, no. 02 (2012): 118. http://dx.doi.org/10.17925/use.2012.08.02.118.

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The growth hormone (GH)-insulin-like growth factor-1 (IGF-1) axis has several roles. While achievement of a satisfactory height is probably the most important and well-known, it is now clear that it also affects body composition, metabolism, muscle mass, and bone density during the transition period. Recombinant-growth hormone (Rec-GH) therapy is normally administered to GH-deficient children to achieve a reasonable final height. Retesting with a provocative test (insulin tolerance test or growth-hormone-releasing hormone + arginine test) is necessary during the transition period, after measur
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7

Radicioni, Antonio F., Matteo Spaziani, Gilda Ruga, et al. "Growth Hormone Deficiency During the Transition Phase." European Endocrinology 8, no. 2 (2010): 112. http://dx.doi.org/10.17925/ee.2012.08.02.112.

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The growth hormone (GH)-insulin-like growth factor-1 (IGF-1) axis has several roles. While achievement of a satisfactory height is probably the most important and well-known, it is now clear that it also affects body composition, metabolism, muscle mass and bone density during the transition period. Recombinant-growth hormone (Rec-GH) therapy is normally administered to GH-deficient children to achieve a reasonable final height. Retesting with a provocative test (insulin tolerance test or growth-hormone-releasing hormone + arginine test) is necessary during the transition period, after measuri
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8

Schleis, Gregory, and Neda Rasouli. "Two Extremes of Dysglycemia- a Rare Case of Diabetes Complicated With a Non-Functional Pancreatic Neuroendocrine Tumor Transforming to an Insulinoma." Journal of the Endocrine Society 5, Supplement_1 (2021): A404—A405. http://dx.doi.org/10.1210/jendso/bvab048.823.

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Abstract Background: Diabetes is characterized by hyperglycemia with heterogeneous pathophysiological features and varied presentation and consequences. Here, we present a rare case of diabetes that was complicated with insulinoma making glycemia management complicated. Clinical Case: A 48-year-old white man was diagnosed with diabetes when he presented with weight loss, polyuria and polydipsia and HbA1c of 11%. He was treated with oral agents for few months without a good response then switched to insulin. He was assumed to have type 1 diabetes and had fairly well controlled glycemia on multi
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9

Li, Xia, Shuting Yang, Chuqing Cao, et al. "Validation of the Swedish Diabetes Re-Grouping Scheme in Adult-Onset Diabetes in China." Journal of Clinical Endocrinology & Metabolism 105, no. 10 (2020): e3519-e3528. http://dx.doi.org/10.1210/clinem/dgaa524.

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Abstract Context This study applied the Swedish novel data-driven classification in Chinese newly diagnosed diabetic patients and validated its adoptability. Objective This study aimed to validate the practicality of the Swedish diabetes regrouping scheme in Chinese adults with newly diagnosed diabetes. Design Patients were classified into 5 subgroups by K-means and Two-Step methods according to 6 clinical parameters. Setting Ambulatory care. Patients A cross-sectional survey of 15 772 patients with adult-onset newly diagnosed diabetes was conducted in China from April 2015 to October 2017. In
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10

Kutoh, Eiji, Jyunka Hayashi, and Alexandra N. Kuto. "Efficacy and safety of dulaglutide in patients with absolute insulin deficiency." Endocrine Regulations 53, no. 3 (2019): 187–90. http://dx.doi.org/10.2478/enr-2019-0019.

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AbstractObjective. While dulaglutide has been approved inpatients with type 2 diabetes (T2DM) in combination with insulin, it has not been studied in insulin-deficient patients, not whether they have type 1 diabetes (T1DM) or T2DM. The aim of this study is to assess the efficacy and safety of dulaglutide 0.75 mg/once weekly (QW) in patients with absolute insulin deficiency (n=10).Subjects and Results. Significant reductions of HbA1c (9.30±1.03% to 8.61±1.21%; p&lt;0.02) and body mass index (BMI; 23.61±3.95 to 23.41±4.24; p&lt;0.02) levels were observed at 3 months with the addition of dulaglut
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11

Cheng, Ziqi, Dongsheng Guo, Aynisahan Ruzi, et al. "Modeling MEN1 with Patient-Origin iPSCs Reveals GLP-1R Mediated Hypersecretion of Insulin." Cells 11, no. 15 (2022): 2387. http://dx.doi.org/10.3390/cells11152387.

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Multiple endocrine neoplasia type 1 (MEN1) is an inherited disease caused by mutations in the MEN1 gene encoding a nuclear protein menin. Among those different endocrine tumors of MEN1, the pancreatic neuroendocrine tumors (PNETs) are life-threatening and frequently implicated. Since there are uncertainties in genotype and phenotype relationship and there are species differences between humans and mice, it is worth it to replenish the mice model with human cell resources. Here, we tested whether the patient-origin induced pluripotent stem cell (iPSC) lines could phenocopy some defects of MEN1.
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12

Stern, Robert C., James T. Mayes, Fredrick L. Weber Jr, Edmond W. Blades, and James A. Schulak. "Restoration of exocrine pancreatic function following pancreas‐liver‐kidney transplantation in a cystic fibrosis patient." Clinical Transplantation 8, no. 1 (1994): 1–4. http://dx.doi.org/10.1111/j.1399-0012.1994.tb00933.x.

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Pancreatic transplantation for endocrine replacement is well‐established for insulin‐dependent diabetes mellitus. Exocrine pancreatic function after pancreas transplantation has been maintained after orthotopic cluster transplants for malignancy, and restoration of adequate exocrine function in a previously deficient patient has been reported in a patient with chronic pancreatitis who developed labile diabetes and steatorrhea after pancreatectomy. We performed a triple organ transplant (pancreas, liver and kidney) in a patient with exocrine pancreatic insufficiency and insulin‐dependent diabet
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13

Gupta, Bhawani. "Assessment of post operative wound healing in diabetic patients after extraction." International Journal of Advances in Scientific Research 3, no. 7 (2017): 77. http://dx.doi.org/10.7439/ijasr.v3i7.4210.

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Diabetes is a common metabolic disorder characterised by an inability to regulate blood glucose due to insulin deficiency or resistance. Type 1 diabetes or insulin dependent diabetes is characterised by deficient insulin production whereas type II or non-insulin dependent diabetes results from relative insulin deficiency and tissue insulin resistance.Traditionally in dentistry, diabetics are considered to have increased healing problems related to dental extractions, periodontal surgery and wearing ill-fitting dentures. They are also considered more likely to have infections. Although this may
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14

Maechler, P., and P. B. M. de Andrade. "Mitochondrial damages and the regulation of insulin secretion." Biochemical Society Transactions 34, no. 5 (2006): 824–27. http://dx.doi.org/10.1042/bst0340824.

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Pancreatic β-cells are able to respond to nutrients, principally glucose, as the primary stimulus for insulin exocytosis. This unique feature requires translation of metabolic substrates into intracellular messengers recognized by the exocytotic machinery. Central to this signal transduction mechanism, mitochondria integrate and generate metabolic signals, thereby coupling glucose recognition with insulin secretion. In response to a glucose rise, nucleotides and metabolites are generated by mitochondria and participate, together with cytosolic Ca2+, in the stimulation of insulin exocytosis. Mi
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15

Abs, Roger, Louis Verbist, Marleen Moeremans, Pierre Blockx, Ivo De Leeuw, and Jozef Bekaert. "Hypoglycemia owing to inappropriate glucagon secretion treated with a continuous subcutaneous glucagon infusion system." Acta Endocrinologica 122, no. 3 (1990): 319–22. http://dx.doi.org/10.1530/acta.0.1220319.

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Abstract A selective glucagon deficiency was documented in a 36-year-old female patient suffering from severe hypoglycemic attacks. The extremely low fasting plasma glucagon levels could not be stimulated by hypoglycemia. The increase in plasma glucagon during stimulation with arginine did not prevent hypoglycemia provoked by the simultaneous insulin secretion. Treatment consisting of a continuous sc glucagon infusion system resulted in correction of both postabsorptive and postprandial hypoglycemia. Further lowering of the glucose level during an arginine test could be the hallmark of this hy
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16

Ahlqvist, Emma, Rashmi B. Prasad, and Leif Groop. "100 YEARS OF INSULIN: Towards improved precision and a new classification of diabetes mellitus." Journal of Endocrinology 252, no. 3 (2022): R59—R70. http://dx.doi.org/10.1530/joe-20-0596.

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Type 2 diabetes (T2D) is one of the fastest increasing diseases worldwide. Although it is defined by a single metabolite, glucose, it is increasingly recognized as a highly heterogeneous disease with varying clinical manifestations. Identification of different subtypes at an early stage of disease when complications might still be prevented could hopefully allow for more personalized medicine. An important step toward precision medicine would be to target the right resources to the right patients, thereby improving patient health and reducing health costs for the society. More well-defined dis
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17

Shashank, Joshi, Gaikwad Vijayendra, Rathod Sairam, Rathod Anamika, and Sagar Neha. "Effective Prediction of Diabetes Mellitus using Nine different Machine Learning Techniques and their Performances." International Journal of Engineering and Advanced Technology (IJEAT) 9, no. 5 (2020): 439–45. https://doi.org/10.35940/ijeat.E9626.069520.

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Diabetes is a disease where the predominant finding is high blood sugar. The high blood sugar may either be because of deficient insulin production (Type 1) or insulin resistance in peripheral tissue cells (Type 2). Many problems occur if diabetes remains untreated and unidentified. It is additional inventor of various varieties of disorders for example: coronary failure, blindness, urinary organ diseases etc. Nine different machine learning techniques are used in this research work for prediction of diabetes. A dataset of diabetic patient&rsquo;s is taken and nine different machine learning t
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18

Mukthar, Mamoun, Sijomol Skaria, RamadanAbdelsalamBeshir Ahmed, and AkremY M. Elmalti. "Sodium-glucose co-transporter 2 inhibitor-induced euglycemic diabetic ketoacidosis in a Type 2 diabetes patient not absolutely insulin-deficient!" Ibnosina Journal of Medicine and Biomedical Sciences 11, no. 1 (2019): 35. http://dx.doi.org/10.4103/ijmbs.ijmbs_92_18.

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19

Jo, Inha, Guido Mora, Sylvia Robinson, and Carla Minutti. "PMON37 Diabetes and Hypopituitarism Secondary to Iron Overload in a Patient with Pure Red Cell Aplasia." Journal of the Endocrine Society 6, Supplement_1 (2022): A551. http://dx.doi.org/10.1210/jendso/bvac150.1145.

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Abstract Background Pure red cell aplasia is a rare bone marrow disorder that results in decline in red blood cell production by the bone marrow. Treatment involves multiple blood transfusions to keep up the red blood cell count, which can lead to iron overload. Hypopituitarism is a condition, where two or more pituitary hormones are deficient. Here we present a case of diabetes and hypopituitarism secondary to iron overload from blood transfusions. Clinical Case A 19 year male with pure red cell aplasia was admitted for anemia and was noted to have short stature with growth percentile at 0.36
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20

Müller, Jørn, Jørgen Starup, J. Sandahl Christiansen, Jens OL Jøgensen, Anders Juul, and Niels E. Skakkebaek. "Growth hormone treatment during pregnancy in a growth hormone-deficient woman." European Journal of Endocrinology 132, no. 6 (1995): 727–29. http://dx.doi.org/10.1530/eje.0.1320727.

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Müller J, Starup J, Christiansen JS, Jørgensen JOL, Juul A, Skakkebaek NE, Growth hormone treatment during pregnancy in a growth hormone-deficient woman. Eur J Endocrinol 1995;132:727–9. ISSN 0804–4643 Information on the course and outcome of pregnancies in growth hormone (GH)-deficient patients is sparse, and GH treatment during pregnancy in such women has not been described previously. We have studied fetal growth and serum levels of GH, insulin-like growth factor I (IGF-I) and IGF binding protein 3 (IGFBP-3) during pregnancy, as well as birth weight and hormone levels after delivery in a 2
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21

Degerblad, Marie, Ove Almkvist, Roland Grunditz, et al. "Physical and psychological capabilities during substitution therapy with recombinant growth hormone in adults with growth hormone deficiency." Acta Endocrinologica 123, no. 2 (1990): 185–93. http://dx.doi.org/10.1530/acta.0.1230185.

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Abstract. In a double-blind cross-over study with recombinant methionyl growth hormone (GH) and placebo during 12 weeks, the effect of GH substitution therapy (0.5-0.6 IU · kg−1 · week−1) on physical performance, muscle strength, bone mineral density, and mood and cognitive functions was investigated in 6 GH-deficient adults. During GH substitution serum concentrations of insulin-like growth factor-I and procollagen-III peptide increased in all 6 patients, whereas concentrations of serum urea decreased. Five of the patients identified the GH period and reported improved well-being with increas
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22

Rodrigues Oliveira, Sonia M., António Rebocho, Ehsan Ahmadpour, Veeranoot Nissapatorn, and Maria de Lourdes Pereira. "Type 1 Diabetes Mellitus: A Review on Advances and Challenges in Creating Insulin Producing Devices." Micromachines 14, no. 1 (2023): 151. http://dx.doi.org/10.3390/mi14010151.

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Type 1 diabetes mellitus (T1DM) is the most common autoimmune chronic disease in young patients. It is caused by the destruction of pancreatic endocrine β-cells that produce insulin in specific areas of the pancreas, known as islets of Langerhans. As a result, the body becomes insulin deficient and hyperglycemic. Complications associated with diabetes are life-threatening and the current standard of care for T1DM consists still of insulin injections. Lifesaving, exogenous insulin replacement is a chronic and costly burden of care for diabetic patients. Alternative therapeutic options have been
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23

Islam, Farhana, Rezwana Kabir, Rezaul Karim Kazal, et al. "Frequency of Hypovitaminosis D in Obese Adolescent with Polycystic Ovary Syndrome." Scholars International Journal of Obstetrics and Gynecology 6, no. 09 (2023): 369–77. http://dx.doi.org/10.36348/sijog.2023.v06i09.004.

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Background: Polycystic ovary syndrome (PCOS) is one of the most common female endocrine disorders affecting the reproductive age group and is thought to be one of the leading cause of female infertility. Many patients with polycystic ovary syndrome (PCOS) also have features of the metabolic syndrome, including insulin resistance, obesity, and dyslipidemia. Vitamin D affects insulin and glucose metabolism, and a low vitamin D status maybe a risk factor for PCOS. Aim: To determine vitamin D status among the obese adolescent with Polycystic Ovary Syndrome (PCOS) and to compare the vitamin D level
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24

Maffei, Laura, Yoko Murata, Vincenzo Rochira, et al. "Dysmetabolic Syndrome in a Man with a Novel Mutation of the Aromatase Gene: Effects of Testosterone, Alendronate, and Estradiol Treatment." Journal of Clinical Endocrinology & Metabolism 89, no. 1 (2004): 61–70. http://dx.doi.org/10.1210/jc.2003-030313.

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We present the fourth case of an adult man (29 yr old) affected by aromatase deficiency resulting from a novel homozygous inactivating mutation of the CYP19 (P450arom) gene. At first observation, continuing linear growth, eunuchoid body proportions, diffuse bone pain, and bilateral cryptorchidism were observed. The patient presented also a complex dysmetabolic syndrome characterized by insulin resistance, diabetes mellitus type 2, acanthosis nigricans, liver steatohepatitis, and signs of precocious atherogenesis. The analysis of the effects induced by the successive treatment with high doses o
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Bayoumi, Riad, Muhammad Farooqi, Fatheya Alawadi, et al. "Etiologies underlying subtypes of long-standing type 2 diabetes." PLOS ONE 19, no. 5 (2024): e0304036. http://dx.doi.org/10.1371/journal.pone.0304036.

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Background Attempts to subtype, type 2 diabetes (T2D) have mostly focused on newly diagnosed European patients. In this study, our aim was to subtype T2D in a non-white Emirati ethnic population with long-standing disease, using unsupervised soft clustering, based on etiological determinants. Methods The Auto Cluster model in the IBM SPSS Modeler was used to cluster data from 348 Emirati patients with long-standing T2D. Five predictor variables (fasting blood glucose (FBG), fasting serum insulin (FSI), body mass index (BMI), hemoglobin A1c (HbA1c) and age at diagnosis) were used to determine t
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Abdelaal Ahmed Mahmoud, Ahmed, Mark Campbell, and Margarita Blajeva. "Can ACE-I Be a Silent Killer While Normal Renal Functions Falsely Secure Us?" Case Reports in Anesthesiology 2018 (July 9, 2018): 1–4. http://dx.doi.org/10.1155/2018/1852016.

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The current case report represents a warning against serious hyperkalaemia and acidosis induced by ACE-I during surgical stress while normal renal function could deceive the attending anaesthetist. Arterial gas analysis for follow-up of haemoglobin loss accidentally discovered hyperkalaemia and acidosis. Glucose-insulin and furosemide successfully corrected hyperkalaemia after 25 minutes and acidosis after 3 hours. These complications could be explained by a deficient steroid stress response to surgery secondary to suppression by ACE-I. Event analysis and database search found that ACE-I induc
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Baxter, RC, M. Svejkar, MJ Khosravi, et al. "Measurement of the acid-labile subunit of the insulin-like growth factor binding protein complex in human serum: a comparison of four immunoassays." Journal of Endocrinology 165, no. 2 (2000): 271–79. http://dx.doi.org/10.1677/joe.0.1650271.

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The acid-labile subunit (ALS) of the high molecular weight insulin-like growth factor binding protein complex is a liver-derived glycoprotein which is regulated by growth hormone and serves as a serum marker of growth hormone action. We have compared the measurement of ALS by four immunoassay methods (two RIAs, two ELISAs) utilizing various polyclonal and monoclonal antibodies raised against natural or recombinant human ALS, or synthetic ALS peptides. Despite the variety of methodologies and reagents, results obtained by the four methods were highly correlated for 125 sera from various patient
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28

Hoogenberg, Klaas, Wim I. Sluiter, and Robin PF Dullaart. "Effect of growth hormone and insulin-like growth factor I on urinary albumin excretion: studies in acromegaly and growth hormone deficiency." Acta Endocrinologica 129, no. 2 (1993): 151–57. http://dx.doi.org/10.1530/acta.0.1290151.

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Glomerular hyperfiltration is a characteristic feature of acromegaly but it is uncertain whether albuminuria is elevated in this disease. To investigate the role of abnormal growth hormone (GH) and insulin-like growth factor I (IGF-I) levels on urinary protein excretion, we measured the overnight urinary albumin excretion rate (UalbV) and creatinine clearance in 14 acromegalic patients with metabolically active disease (fasting GH &gt; 5 μg/l and IGF-I &gt; 2.2 kU/l), 8 GH-deficient patients and 20 control subjects. The UalbV was higher in the acromegalic patients (median 8.4 (range 4.2–68.2)
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29

Schneider, H. J., B. L. Herrmann, M. Schneider, C. Sievers, L. Schaaf, and G. K. Stalla. "Discrepant results in the diagnosis of GH deficiency with the insulin-tolerance test and the GHRH plus arginine test in patients with traumatic brain injury." European Journal of Endocrinology 155, no. 4 (2006): 553–57. http://dx.doi.org/10.1530/eje.1.02258.

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Objective: Patients with traumatic brain injury (TBI) are at moderate risk of GH deficiency (GHD), requiring a diagnostic test with high specificity. The GHRH + arginine (GHRH + ARG) test has been recommended as a reliable alternative to the insulin-tolerance test (ITT) as a standard test with a cutoff level of 9 ng/ml. However, it has recently been questioned for its low specificity in obese subjects, and now BMI-dependent cut-off levels are available. In this study, we compared the ITT and GHRH + ARG test in patients with TBI. Design: A cross-sectional study Methods: We performed an ITT and
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Zangana, Kawes Omer, and Zaher Taher Gardi. "Variable response to growth hormone therapy in growth hormone deficient patients and role of insulin like growth factor one in monitoring response to therapy." Advanced medical journal 3, no. 2 (2017): 17–22. http://dx.doi.org/10.56056/amj.2017.26.

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Background and objectives: To find out the response to growth hormone therapy among growth hormone deficiency patients with different causes and to find out the role of insulin-like growth factor one in monitoring response. Methods: This retrospective study was done on fifty patients who received growth hormone for short stature due to different causes. The patients were enrolled in the study that was conducted from June 2015 to December 2015 in Helina center- Erbil. All details including history, examination, investigations, treatment and follow-up were revised. Investigations that have been
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Mahfuza, Ummul, Harpreet Kaur, Antonio Di Ieva, and Veronica Preda. "ACHIEVING EQUILIBRIUM — GROWTH HORMONE (GH) DYSFUNCTION, THERAPY AND OBJECTIVE MEASUREMENT OF OUTCOME." Journal of the ASEAN Federation of Endocrine Societies 37, no. 2 (2022): 55. https://doi.org/10.15605/jafes.037.afes.87.

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INTRODUCTIONGrowth hormone (GH) derangement can impair physiological function and patient’s quality of life (QoL). Until recently adult GH deficient (AGHD) patients have been undertreated in Australia due to prescribing cost limitations. Due to the relative rarity, adult acromegalic (AA) patient data has not been well documented across these domains. This study aims to contribute to the clinical understanding of GH deficient and excess states once GH levels are normalised with therapy. METHODOLOGYThis is a single-centre, mixed methods study and chart review (2012 to April 2022) of 28 AGHD and
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Potter, C. J., L. G. Pedraza, H. Huang, and T. Xu. "The tuberous sclerosis complex (TSC) pathway and mechanism of size control." Biochemical Society Transactions 31, no. 3 (2003): 584–86. http://dx.doi.org/10.1042/bst0310584.

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We have identified three groups of growth-constraint genes using mosaic genetic screens in Drosophila melanogaster, including PTEN (phosphatase and tensin homologue deleted on chromosome 10), and the tuberous sclerosis complex (TSC) genes, Tsc1 and Tsc2. Our studies show that all three groups of genes participate in mechanisms that regulate organ and organism size in animals. We propose that mechanisms of organ size control are critical targets for diseases, such as tumorigenesis, which require an increase in tissue size and total mass, and for evolutionary events that alter the size of organi
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33

Riedl, M., M. Hass, R. Oberbauer, J. Gisinger, A. Luger, and G. Mayer. "The effects of prolonged substitution of recombinant human growth hormone on renal functional reserve in growth hormone-deficient adults." Journal of the American Society of Nephrology 6, no. 5 (1995): 1434–38. http://dx.doi.org/10.1681/asn.v651434.

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Twelve growth hormone (GH)-deficient adults with normal renal function were recruited for a 6-month, double-blind, placebo-controlled study on the effects of prolonged recombinant human growth hormone (rhGH) substitution therapy on renal functional parameters. RhGH was administered at a dose 0.125 IU/kg per week sc the first 4 wk and 0.25 IU/kg per week thereafter. At baseline and after 6 months of therapy, GFR and RPF were measured by the use of iothalamate and para- aminohippurate clearance techniques before and after an intravenous infusion of amino acids (AA) to determine the renal functio
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van Nieuwpoort, I. C., C. C. van Bunderen, L. I. Arwert, et al. "Dutch National Registry of GH Treatment in Adults: patient characteristics and diagnostic test procedures." European Journal of Endocrinology 164, no. 4 (2011): 491–97. http://dx.doi.org/10.1530/eje-10-0914.

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ObjectiveThe Dutch National Registry of GH Treatment in Adults was established in 1998 as an initiative of the Ministry of Health. The main goals were to gain more insight into long-term efficacy, safety, and costs of GH therapy (GHT) in adult GH-deficient (GHD) patients in The Netherlands.MethodsBaseline patient characteristics and diagnostic test procedures were evaluated.ResultsUntil January 2009 in roughly 10 years, 2891 patients (1475 men and 1416 women, mean age 43.5±16.5 years) were registered. GHD was of childhood-onset (CO) in over 20% of the patients and of isolated in 11%. The most
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Pisklakova, Alexandra, Mark Nagrani, Saurabh Mohanachandran, and James Abraham. "ODP220 Latent Autoimmune Diabetes of Adults and PCOS - an Unusual Combination." Journal of the Endocrine Society 6, Supplement_1 (2022): A324. http://dx.doi.org/10.1210/jendso/bvac150.671.

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Abstract Introduction Latent autoimmune diabetes of adults (LADA) is an adult-onset subtype of autoimmune type 1 diabetes mellitus (T1DM), that is often misdiagnosed as T2DM. We present a case of LADA that was diagnosed in a young female with PCOS (polycystic ovaries syndrome) previously unsuccessfully managed as a T2DM patient. Case report 20-years-old female with past medical history of hyperlipidemia, newly diagnosed PCOS and suspected T2DM, presented to the PCP office for a routine follow up. Patient medication regimen consisted of Metformin 500 mg BID, Spironolactone 50 mg daily and oral
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Ragav, E. Dinesh, and Arthi P. S. "Factors responsible for low serum vitamin-D levels in type-2 diabetes mellitus females: a cross-sectional study." International Journal of Advances in Medicine 8, no. 5 (2021): 636. http://dx.doi.org/10.18203/2349-3933.ijam20211469.

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Background: Diabetes mellitus are a group of disorders as a result of reduced insulin secretion, insulin resistance, and increased glucose production and many more unknown etiologies. As compared to diabetic non-obese, diabetic obese individuals have an increased chance of 13.5 % in developing diabetic complications. Many diabetic patients are found to be vitamin-D deficient and its role in insulin regulation is being studied in many studies. Thus, diabetic complications and vitamin-D deficiency are likely to be developed in obese diabetic females.Methods: Type-2 diabetic females from 30 years
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Jørgensen, Jens Otto L., Werner F. Blum, Niels Møller, Michael B. Ranke, and Jens S. Christiansen. "Circadian patterns of serum insulin-like growth factor (IGF) II and IGF binding protein 3 in growth hormone-deficient patients and age- and sex-matched normal subjects." Acta Endocrinologica 123, no. 3 (1990): 257–62. http://dx.doi.org/10.1530/acta.0.1230257.

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Abstract. Knowledge of the circadian patterns of serum IGF-I I and the large molecular weight IGF binding protein, IGFBP-3 might, apart from its physiological relevance, be of clinical interest, inasmuch as measurements of these parameters are being introduced into the evaluation of GH deficiency. We therefore evaluated the 24-h (08.00-08.00 h) patterns of serum IGF-II and IGFBP-3 in 8 GH-deficient patients who were studied during three periods when receiving 1. GH (2 IU) at 20.00 h; 2. GH (2 IU) at 08.00 h and 3. no GH. For comparison, 10 age- and sex-matched untreated healthy subjects were s
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Laursen, Torben, Jens O. L. Jørgensen, Søren Susgaard, Jens Møller, and Jens S. Christiansen. "Subcutaneous Absorption Kinetics of Two Highly Concentrated Preparations of Recombinant Human Growth Hormone." Annals of Pharmacotherapy 27, no. 4 (1993): 411–15. http://dx.doi.org/10.1177/106002809302700402.

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OBJECTIVE: The relative bioavailability of two highly concentrated (12 IU/mL) formulations of biosynthetic human growth hormone (GH) administered subcutaneously was compared. DESIGN: A randomized, crossover study. Conventional GH therapy was withdrawn 72 hours before each study period. There was a washout period of at least four weeks between the study periods. SETTING: Participants were recruited from an outpatient clinic and were hospitalized during the two study periods. PATIENTS: Fourteen GH-deficient patients (mean age 25.2 y, range 14–54). One patient was excluded from data analysis beca
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Augustine, Amie-Anne, Jin Hui Ho, and Hwee Ching Tee. "PYCNODYSOSTOSIS IN A YOUNG ADULT PRESENTING WITH FRAGILITY FRACTURE AND HIGH BONE MINERAL DENSITY." Journal of the ASEAN Federation of Endocrine Societies 40, S1 (2025): 81. https://doi.org/10.15605/jafes.040.s1.137.

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INTRODUCTION/BACKGROUNDPycnodysostosis is a rare skeletal dysplasia and a subtype of osteopetrosis caused by deficient activity of the lysosomal protease cathepsin K (CTSK) gene. We present a case of pycnodysostosis exhibiting characteristic clinical features alongside a fragility fracture—an association that has been rarely reported. CASEA 33-year-old Malay female, born of a consanguineous marriage, presented with a subtrochanteric fracture of the proximal left femur following a trivial fall and underwent open reduction with locking compression plate fixation. She was noted to have a short st
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Schweisberger, Cintya, Jill Diane Jacobson, and Emily Paprocki. "Metreleptin and Metformin Use in an Infant With Congenital Generalized Lipodystrophy Secondary to AGPAT2 Mutation." Journal of the Endocrine Society 5, Supplement_1 (2021): A701—A702. http://dx.doi.org/10.1210/jendso/bvab048.1429.

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Abstract Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by widespread loss of subcutaneous fat and severe metabolic abnormalities. Metreleptin, a synthetic analog of leptin, is a treatment modality that has been shown to decrease fasting triglycerides, fasting glucose, and HbA1c. Metformin use in infants has only been described in a few case reports of CGL and Donohue syndrome (insulin receptor mutation), and there is no established dosing for this age group. We report metreleptin, insulin, and metformin use in an infant with type 1 CGL who pre
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Sen, Arsovic, Meierhofer, et al. "In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism." International Journal of Molecular Sciences 20, no. 23 (2019): 5854. http://dx.doi.org/10.3390/ijms20235854.

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Ataxin-2 (human gene symbol ATXN2) acts during stress responses, modulating mRNA translation and nutrient metabolism. Ataxin-2 knockout mice exhibit progressive obesity, dyslipidemia, and insulin resistance. Conversely, the progressive ATXN2 gain of function due to the fact of polyglutamine (polyQ) expansions leads to a dominantly inherited neurodegenerative process named spinocerebellar ataxia type 2 (SCA2) with early adipose tissue loss and late muscle atrophy. We tried to understand lipid dysregulation in a SCA2 patient brain and in an authentic mouse model. Thin layer chromatography of a p
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Mauras, Nelly, Victor Martinez, Annie Rini, and Jaime Guevara-Aguirre. "Recombinant Human Insulin-Like Growth Factor I Has Significant Anabolic Effects in Adults with Growth Hormone Receptor Deficiency: Studies on Protein, Glucose, and Lipid Metabolism*." Journal of Clinical Endocrinology & Metabolism 85, no. 9 (2000): 3036–42. http://dx.doi.org/10.1210/jcem.85.9.6772.

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Abstract The physiological effects of insulin-like growth factor I (IGF-I) on intermediate metabolism of substrates have been extensively studied in a variety of experimental situations in man, and its effects on linear growth of children with GH receptor mutations have proven beneficial. However, there is a paucity of data on the metabolic effects of IGF-I as replacement therapy in adults with GH receptor deficiency (Laron’s syndrome). We designed these studies to investigate the in vivo effects of 8 weeks of therapy with recombinant human IGF-I (rhIGF-I) in a unique group of 10 adult subject
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Agha, Amar, Mark Sherlock, Sinead Brennan, et al. "Hypothalamic-Pituitary Dysfunction after Irradiation of Nonpituitary Brain Tumors in Adults." Journal of Clinical Endocrinology & Metabolism 90, no. 12 (2005): 6355–60. http://dx.doi.org/10.1210/jc.2005-1525.

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Context: Hypothalamic-pituitary (HP) dysfunction is common in children treated with cranial radiotherapy (RT) for brain tumors, but there is little known about the risk of HP dysfunction in adults treated with RT for primary nonpituitary brain tumors. Objective: The objective was to study the frequency of HP dysfunction in adults after RT for nonpituitary brain tumors. Method: We studied 56 adult patients who received external beam RT for primary nonpituitary brain tumors at time intervals of 12–150 months after RT. The control group consisted of 20 RT-naive patients with primary brain tumors.
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Rogava, Meri, Tyler Joseph Aprati, Wei-Yu Chen, et al. "Abstract 3514: A genetic-metabolic circuit of liver-specific metastatic organotropism." Cancer Research 83, no. 7_Supplement (2023): 3514. http://dx.doi.org/10.1158/1538-7445.am2023-3514.

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Abstract Liver metastasis (LM) occurs frequently in patients with melanoma and is associated with a poor prognosis and reduced therapy response. To identify drivers of metastatic niches, we used a syngeneic mouse melanoma model which recapitulates genomic, metastatic and therapy response patterns seen in patients, and performed a large-scale in vivo CRISPR-Cas9 knockout screen, which identified perturbations that strongly promoted liver but not lung metastasis. The “top hit” in this screen associated with LM was loss Pip4k2c. Mechanistically, loss of Pip4k2c sensitized both mouse and human mel
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Arora, Gunjan, and Toral Patel. "LBSAT236 A Case of Immune Checkpoint Inhibitor Pembrolizumab Induced Simultaneous Rare Endocrinopathies, Type 1 DM (presenting As DKA) And Grave's Thyrotoxicosis, With Evidence Of Autoimmunity Development." Journal of the Endocrine Society 6, Supplement_1 (2022): A279. http://dx.doi.org/10.1210/jendso/bvac150.575.

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Abstract Introduction Pembrolizumab is a novel immunotherapeutic monoclonal antibody directed against PD-1 (programmed death receptor 1), which has been linked to endocrinopathies. We present a rare case of type 1 DM and Grave's disease noted in setting of Pembrolizumab use. Case presentation A 56 year old female with history of Hodgkin's lymphoma (being treated with Pembrolizumab), heart failure and type 2 DM was sent to the ED from oncology infusion clinic for labs concerning for DKA. She endorsed fatigue, light-headedness, polydipsia and polyuria. She had moderate to severe DKA with bicarbo
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Sato, Tetsuhiko, Hirotaka Komaba, Tetsuya Nagatani, Tadashi Watanabe, Yugo Kishida, and Masafumi Fukagawa. "The Pituitary Is a Candidate Organ That Modulates Circulating Klotho Levels." Journal of the Endocrine Society 3, no. 1 (2018): 52–61. http://dx.doi.org/10.1210/js.2018-00223.

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Abstract Context The antiaging protein Klotho is shed and released into the blood stream (soluble Klotho). Growth hormone (GH) is considered an active Klotho regulator, because growth retardation is described in Klotho-deficient mice. The origin of circulating Klotho is, however, not fully understood. Objectives Our objective was to analyze a possible role of the pituitary in regulating soluble Klotho in patients with pituitary adenomas. Patients, Design, and Setting We analyzed serum levels of soluble Klotho, GH, and insulin-like growth factor 1 (IGF-1) from 21 consecutive patients in our cen
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Patel, Aashka, Nicole Larsen, Liliana Burdea, Stelios Mantis, and Carla Minutti. "Multiple Concomitant Episodes of Diabetic Ketoacidosis and Acute Pancreatitis in a Pediatric Patient With Type 1 Diabetes." Journal of the Endocrine Society 5, Supplement_1 (2021): A702—A703. http://dx.doi.org/10.1210/jendso/bvab048.1431.

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Abstract Introduction: Abdominal pain is a common presenting symptom in diabetic ketoacidosis (DKA). Correction of the acidosis usually leads to resolution of the abdominal pain. In some instances, the pain may persist due to additional etiologies presenting alongside DKA. Though uncommon, there has been shown to be an association between DKA and acute pancreatitis (AP). In these rare cases, AP was secondary to the hypertriglyceridemia (HTG) state induced by DKA. We report a 13-year-old female known with type 1 diabetes (T1D) who presented with multiple concomitant episodes of DKA and AP and n
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Fernholm, Rita, Margareta Bramnert, Erik Hägg, et al. "Growth Hormone Replacement Therapy Improves Body Composition and Increases Bone Metabolism in Elderly Patients with Pituitary Disease1." Journal of Clinical Endocrinology & Metabolism 85, no. 11 (2000): 4104–12. http://dx.doi.org/10.1210/jcem.85.11.6949.

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Although a specific GH deficiency (GHD) syndrome in the adult and the response to GH replacement therapy are well recognized, there are few data available on the effect of GH replacement therapy in elderly GH-deficient patients. We studied the effect of GH therapy on body composition and bone mineral density measured by dual energy x-ray absorptiometry, markers for bone metabolism, insulin-like growth factors (IGFs), and IGF-binding proteins (IGFBPs) in 31 patients (6 women and 25 men; aged 60–79 yr; mean, 68 yr) with multiple pituitary hormone deficiencies. The GH response to arginine or insu
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Meyer, S., M. Ipek, A. Keth, et al. "Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor." Growth Hormone & IGF Research 17, no. 4 (2007): 307–14. http://dx.doi.org/10.1016/j.ghir.2007.03.001.

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Kutoh, Eiji, and Tadataka Hori. "Effect of Sitagliptin in Type 1 or Type 2 Diabetic Patients with Absolute Insulin Deficiency: A 48 Weeks Observational Study." June 16, 2013. https://doi.org/10.5281/zenodo.8022.

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Aims: The aim of this study is to investigate the long-term efficacy of sitagliptin added to insulin in type 1 or type 2 diabetic patients with absolute insulin deficiency. Study Design: 48 weeks open-label, observational study. Place and Duration of Study: Department of Internal Medicine, Gyoda General Hospital, between June 2010 and December 2012. Methodology: Sitagliptin 25-100 mg/day was added to the ongoing insulin therapy in those without any detectable post-meal C-peptide levels. HbA1c and other parameters were followed for 48 weeks. Results: Effective reductions of HbA1c levels were al
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