Albright hereditary osteodystrophy with multiple hormone resistance
Parathyroid hormone (pth) resistance caused by heterozygous inactivating mutation(s) of the maternal allele of the gnas gene encoding gs-alpha, resulting in expression of pth from only the paternal allele.
Clinical features
Clinical manifestations include albright hereditary osteodystrophy, early-onset obesity and, in some cases, resistance to thyroid-stimulating hormone, gonadotropins, and growth hormone-releasing hormone, reflecting additional manifestations of gs-alpha deficiency.
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Contributors: Prab R. Tumpati, MD
