Incomplete phenotypic presentation in a girl with rare Rabson–Mendenhall syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00592-022-01971-3.pdf
Reference5 articles.
1. Plamper M, Gohlke B, Schreiner F, Woelfle J (2018) Mecasermin in insulin receptor-related severe insulin resistance syndromes: case report and review of the literature. Int J Mol Sci 19(5):1268. https://doi.org/10.3390/ijms19051268
2. Fowlkes JL, Bunn RC, Coleman HN, Hall B, Reid MC, Thrailkill KM (2007) Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson–Mendenhall type). Growth Horm IGF Res 17(5):399–407. https://doi.org/10.1016/j.ghir.2007.04.007
3. Dutta D, Maisnam I, Ghosh S, Mukhopadhyay S, Chowdhury S (2013) Syndrome of extreme insulin resistance (Rabson–Mendenhall Phenotype) with atrial septal defect: clinical presentation and treatment outcomes. J Clin Res Pediatr Endocrinol 5(1):58–61. https://doi.org/10.4274/Jcrpe.857
4. Takeuchi T, Ishigaki Y, Hirota Y et al (2020) Clinical characteristics of insulin resistance syndromes: a nationwide survey in Japan. J Diabetes Investig 11(3):603–616. https://doi.org/10.1111/jdi.13171
5. Grasso V, Colombo C, Favalli V et al (2013) Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: is a Bartter-like syndrome a feature of congenital SIR? Acta Diabetol 50(6):951–957. https://doi.org/10.1007/s00592-013-0490-x
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