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Page 1
Leprechaunism.
Nagarathinam S, Baalann KP. Nagarathinam S, et al. Pan Afr Med J. 2021 Dec 16;40:232. doi: 10.11604/pamj.2021.40.232.31738. eCollection 2021. Pan Afr Med J. 2021. PMID: 35178143 Free PMC article. No abstract available.
Donohue syndrome: A review of literature, case series, and anesthetic considerations.
Kirkwood A, Stuart G, Harding L. Kirkwood A, et al. Paediatr Anaesth. 2018 Jan;28(1):23-27. doi: 10.1111/pan.13273. Epub 2017 Nov 17. Paediatr Anaesth. 2018. PMID: 29148123 Review.
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. ...DISCUSSION: There is currently no published literat …
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insu …
Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency.
Güemes M, Rahman SA, Shah P, Hussain K. Güemes M, et al. Pediatr Diabetes. 2018 Jun;19(4):675-679. doi: 10.1111/pedi.12619. Epub 2017 Dec 11. Pediatr Diabetes. 2018. PMID: 29226618
The main biochemical hallmark of the rare and lethal condition of Donohue syndrome (DS) is hyperinsulinemia. The roles of the gut and other pancreatic hormones involved in glucose metabolism, satiety and energy expenditure have not been previously reported in DS. .. …
The main biochemical hallmark of the rare and lethal condition of Donohue syndrome (DS) is hyperinsulinemia. The roles of the …
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.
Takeuchi T, Ishigaki Y, Hirota Y, Hasegawa Y, Yorifuji T, Kadowaki H, Akamizu T, Ogawa W, Katagiri H. Takeuchi T, et al. J Diabetes Investig. 2020 May;11(3):603-616. doi: 10.1111/jdi.13171. Epub 2019 Dec 5. J Diabetes Investig. 2020. PMID: 31677333 Free PMC article.
AIMS/INTRODUCTION: Insulin resistance syndrome (IRS) of type A or B is triggered by gene abnormalities of or autoantibodies to the insulin receptor, respectively. Rabson-Mendenhall/Donohue syndrome is also caused by defects of the insulin receptor gene (INSR), but i …
AIMS/INTRODUCTION: Insulin resistance syndrome (IRS) of type A or B is triggered by gene abnormalities of or autoantibodies to the insulin r …
Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome.
Kostopoulou E, Shah P, Ahmad N, Semple R, Hussain K. Kostopoulou E, et al. Pediatr Diabetes. 2017 Dec;18(8):839-843. doi: 10.1111/pedi.12483. Epub 2016 Dec 22. Pediatr Diabetes. 2017. PMID: 28004474
Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. ...Our finding that replacement treatment with pancreatic enzymes improved weight gain (case 2) implies th …
Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in …
Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: A single-center experience.
Improda N, Katugampola H, Cerbone M, Shah P, Alexander S, Atterbury A, Hadj-Rabia S, Peters CJ, Semple RK, Dattani MT. Improda N, et al. J Clin Endocrinol Metab. 2026 Jun 17;111(7):2049-2063. doi: 10.1210/clinem/dgag031. J Clin Endocrinol Metab. 2026. PMID: 41606799 Free PMC article.
CONTEXT: Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS) are extreme forms of insulin resistance (IR) caused by biallelic mutations in the insulin receptor gene. ...
CONTEXT: Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS) are extreme forms of insulin resistance (IR) caused by bia …
Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature.
Paauw ND, Stegeman R, de Vroede MAMJ, Termote JUM, Freund MW, Breur JMPJ. Paauw ND, et al. Eur J Pediatr. 2020 Jan;179(1):39-50. doi: 10.1007/s00431-019-03521-6. Epub 2019 Dec 16. Eur J Pediatr. 2020. PMID: 31840185 Free PMC article. Review.
Reviewing the literature, we found that CH is reported in 13 to 44% of infants of diabetic mothers, in approximately 40% of infants with congenital hyperinsulinism, in 61% of infants with leprechaunism and in 48 to 61% of the patients with congenital generalized lipodystro …
Reviewing the literature, we found that CH is reported in 13 to 44% of infants of diabetic mothers, in approximately 40% of infants with con …
"An unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome".
Hashim AS, Al-Obaidi MN, Al-Obaidi AD, Saleh SA, Hashim HT, Al Saeedi M, Ataallah B. Hashim AS, et al. BMC Pediatr. 2024 May 11;24(1):327. doi: 10.1186/s12887-024-04714-1. BMC Pediatr. 2024. PMID: 38773407 Free PMC article.
INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. ...
INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive di …
Congenital hyperinsulinism in the Ukraine: a 10-year national study.
Globa E, Christesen HT, Mortensen MB, Houghton JAL, Nielsen AL, Detlefsen S, Flanagan SE. Globa E, et al. Front Endocrinol (Lausanne). 2024 Dec 17;15:1497579. doi: 10.3389/fendo.2024.1497579. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39741883 Free PMC article.
Pathogenic variants in the K-ATP channel genes were the only identified genetic cause of p-CHI (ABCC8 (n=17) and KCNJ11 (n=2)) with greater genetic heterogeneity observed in those with er-CHI (ABCC8 (n=3), KMT2D (Kabuki Syndrome, n=1), Beckwith-Wiedemann syndrome (n=2) and INSR ( …
Pathogenic variants in the K-ATP channel genes were the only identified genetic cause of p-CHI (ABCC8 (n=17) and KCNJ11 (n=2)) with greater …
Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation.
Rojek A, Wikiera B, Noczynska A, Niedziela M. Rojek A, et al. J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):312-317. doi: 10.4274/jcrpe.galenos.2021.2021.0256. Epub 2021 Dec 30. J Clin Res Pediatr Endocrinol. 2023. PMID: 34965699 Free PMC article.
Mutations in the INSR gene result in rare inherited syndromes causing insulin resistance, such as leprechaunism (Donohue syndrome), Rabson-Mendenhall syndrome and insulin resistance type A. Leprechaunism is an autosomal recessive disorder associated wi …
Mutations in the INSR gene result in rare inherited syndromes causing insulin resistance, such as leprechaunism (Donohue sy …
25 results