Albright Hereditary Osteodystrophy with Multiple Hormone Resistance

**Semantic type:** Disease or Syndrome

**Definition:** 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 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.

**Synonyms:** - PHP1a - Pseudohypoparathyroidism Type 1a