Pseudohypoparathyroidism

University Medical Center reports research in pseudohypoparathyroidism

Published in Obesity and Diabetes Week, March 29th, 2010

According to recent research published in the British Journal of Dermatology, "Albright hereditary osteodystrophy (AHO) is a syndrome of short stature, obesity, brachydactyly and subcutaneous calcifications with pseudohypoparathyroidism (PHP; leading to hypocalcaemia, hyperphosphataemia and elevated levels of parathyroid hormone, PTH). It was first described over 60 years ago."

"Since then, much has been learned about the aetiology of AHO which has been shown to be caused by heterozygous loss-of-function mutations within the GNAS1 gene. GNAS1 is subject to imprinting leading to phenotypic heterogeneity within kindreds with one mutation. with AHO often present...

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Source: Obesity and Diabetes Week (2010-03-29)

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