An 11-Year-Old Female with Short Stature, Developmental Delay, and Bilateral Cataracts

Date

2018-03-14

Authors

Swanson, Larry
Tran, Martin
Hamby, Tyler
Hamilton, Luke
Wilson, Don

ORCID

Journal Title

Journal ISSN

Volume Title

Publisher

Abstract

Pseudohypoparathyroidism (PHP) is a rare, autosomal dominant disorder characterized by an end-organ insensitivity to parathyroid hormone (PTH). 1,2,3 Children with PHP typically present with symptoms of hypocalcemia, such as tetany and seizures. The most common form of PHP is 1A, caused by a loss of function mutation in the GNAS gene, which primarily affects PTH and possibly other hormones that share the same signal transduction. 3,4 In addition to symptoms of hypocalcemia and hormonal resistance, patients with PHP1A present with one or more features of Albright hereditary osteodystrophy (AHO), including short stature, subcutaneous ossifications, obesity, rounded face, mental deficit, and brachydactyly of either the 4th or 5th phalanges of the hands, feet, or both. We report a child who presented with features of PHP1A, discuss the diagnosis, and current recommendation of this rare condition.

Description

Keywords

Citation

Collections