Article
Divergent metabolic phenotypes in two genetic syndromes of low insulin secretion.
Diabetes research and clinical practice - 1 Feb 2023
Guevara-Aguirre Jaime, Rosenbloom Arlan L, Guevara Alexandra, Atkinson Mark A, Williams MacKenzie D, Terán Enrique, Posgai Amanda L, Guevara Carolina, Rosado Verónica, Gavilanes Antonio W D, Wasserfall Clive H
Abstract excerpt
AIMS: We examined the effect of growth hormone (GH) counter-regulation on carbohydrate metabolism in individuals with life-long diminished insulin secretion (DIS). METHODS: Adults homozygous for the E180 splice site mutation of GHR [Laron syndrome (LS)], adults with a gain-of-function mutation in CDKN1c [Guevara-Rosenbloom syndrome (GRS)], and controls were evaluated for body composition, leptin, total and high...
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