Posts Categorized: Part 18: HORMONES

Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

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A new pediatric disorder (named X-linked acrogigantism [X-LAG]) caused by an Xq26.3 genomic duplication and presenting with early-onset gigantism due to an excess of growth hormone has been described in the Dec 2014 issue of the New England Journal of Medicine. Of the four genes included in the Xq26.3 interval, GPR101, which encodes a G-protein-coupled receptor, was overexpressed in patients’ […]

Loss of function mutations in SIM1 are responsible for severe obesity and Prader-Willi-like syndrome

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Two independent groups have published on the July issue of the Journal of Clinical Investigation that loss of function mutations in the SIM1 gene result in severe obesity and in a Prader-Willi-like phenotype. SIM1 is a basic helix-loop-helix transcription factor involved in the development and function of the paraventricular nucleus of the hypothalamus. SIM1 haploinsufficiency in […]