Catalog

Pseudohypoparathyroidism type 1A

No MMS code

Link to WHO Definition

Pseudohypoparathyroidism type 1A – http://id.who.int/icd/entity/1513156369

This is a condition associated primarily with resistance to the parathyroid hormone. Type 1A has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. It is most likely an autosomal dominant disorder. It is also associated with thyroid stimulating hormone resistance