Abstract Title

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

Presenter Name

Martin Tran

RAD Assignment Number

1827

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1

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.

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Research Area

Other

Presentation Type

Poster

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

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.