Pseudohypoparathyroidism type 1A
ORPHA:79443· ICD-10 E20.1
Definition
Pseudohypoparathyroidism type 1A (PHP1a) is 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).
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal