Псевдогіпопаратиреоз, тип 1А
ORPHA:79443· ICD-10 E20.1· Pseudohypoparathyroidism type 1A
Визначення(English summary)
Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) 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; see this term).
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Childhood, Infancy, Neonatal