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Rabson-Mendenhall syndrome.
Parveen BA, Sindhuja R. Parveen BA, et al. Int J Dermatol. 2008 Aug;47(8):839-41. doi: 10.1111/j.1365-4632.2008.03591.x. Int J Dermatol. 2008. PMID: 18717867
Rabson mendenhall syndrome is a rare autosomally recessive inherited insulin resistant disorder. This is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia hypertrichosis, premature and dyspla …
Rabson mendenhall syndrome is a rare autosomally recessive inherited insulin resistant disorder. This is characterized …
Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.
Al-Kandari H, Al-Abdulrazzaq D, Al-Jaser F, Al-Mulla F, Davidsson L. Al-Kandari H, et al. Prim Care Diabetes. 2021 Feb;15(1):175-177. doi: 10.1016/j.pcd.2020.07.012. Epub 2020 Aug 23. Prim Care Diabetes. 2021. PMID: 32843252
AIM: To report on Rabson-Mendenhall Syndrome (RMS) diagnosed in Kuwait. METHODS: A toddler (18 months old) was referred with high plasma insulin and dysmorphic features suggestive of RMS including coarse facial features with globular nose, full lips and furro …
AIM: To report on Rabson-Mendenhall Syndrome (RMS) diagnosed in Kuwait. METHODS: A toddler (18 months old) was referred …
Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function.
Okawa MC, Cochran E, Lightbourne M, Brown RJ. Okawa MC, et al. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1032-e1046. doi: 10.1210/clinem/dgab782. J Clin Endocrinol Metab. 2022. PMID: 34718628 Free PMC article. Clinical Trial.
CONTEXT: Rabson-Mendenhall syndrome (RMS) is caused by biallelic pathogenic variants in the insulin receptor gene (INSR) leading to insulin-resistant diabetes, microvascular complications, and growth hormone resistance with short stature. ...
CONTEXT: Rabson-Mendenhall syndrome (RMS) is caused by biallelic pathogenic variants in the insulin receptor gene (INSR …
Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndrome.
Dos Santos SS, Ramaldes LA, Gabbay MAL, Moises RCS, Dib SA. Dos Santos SS, et al. Horm Res Paediatr. 2021;94(7-8):313-316. doi: 10.1159/000519613. Epub 2021 Sep 22. Horm Res Paediatr. 2021. PMID: 34551418
INTRODUCTION: Among the insulin resistance syndromes that lead to diabetes mellitus in young people, Rabson-Mendenhall syndrome (RMS; OMIM # 262190) is an autosomal recessive inherited disease caused by an insulin receptor mutation (INSR; 147,670). ...
INTRODUCTION: Among the insulin resistance syndromes that lead to diabetes mellitus in young people, Rabson-Mendenhall synd …
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.
Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P. Musso C, et al. Medicine (Baltimore). 2004 Jul;83(4):209-222. doi: 10.1097/01.md.0000133625.73570.54. Medicine (Baltimore). 2004. PMID: 15232309 Free article. Review.
We studied 8 female patients with the type A form of extreme insulin resistance and 3 patients (2 male and 1 female) with the Rabson-Mendenhall syndrome and followed the natural history of these patients for up to 30 years. ...
We studied 8 female patients with the type A form of extreme insulin resistance and 3 patients (2 male and 1 female) with the Rabson- …
Metreleptin improves blood glucose in patients with insulin receptor mutations.
Brown RJ, Cochran E, Gorden P. Brown RJ, et al. J Clin Endocrinol Metab. 2013 Nov;98(11):E1749-56. doi: 10.1210/jc.2013-2317. Epub 2013 Aug 22. J Clin Endocrinol Metab. 2013. PMID: 23969187 Free PMC article. Clinical Trial.
CONTEXT: Rabson-Mendenhall syndrome (RMS) is caused by mutations of the insulin receptor and results in extreme insulin resistance and dysglycemia. ...
CONTEXT: Rabson-Mendenhall syndrome (RMS) is caused by mutations of the insulin receptor and results in extreme insulin …