Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1A
Definition
A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).
Also known as AHO-PHP syndrome Ia, Albright hereditary osteodystrophy, Albright hereditary osteodystrophy with multiple hormone resistance, Albright hereditary osteodystrophy-PHP syndrome Ia, PHP1A, Pseudohypoparathyroidism Ia, Pseudohypoparathyroidism type 1A — per MONDO