Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

TL;DR

A woman with a rare genetic mutation caused adrenal and gonadal issues from birth, leading to unusual sexual development.

Contribution

Highlights a rare StAR mutation causing adrenal and gonadal dysfunction in a 46 XY individual.

Findings

A StAR mutation was identified in a patient with adrenal insufficiency and gonadal dysgenesis.

The mutation caused congenital adrenal hyperplasia and androgen deficiency without anti-Müllerian hormone changes.

Abstract

We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.

Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.

Figures