Congenital lipoid adrenal hyperplasia

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 90790

Definition

A disorder that is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.

Epidemiology

The prevalence is unknown but it is extremely rare and is more common in people of Japanese, Korean and Palestinian ancestry.

Clinical description

Age of onset typically occurs in the antenatal period but congenital anomalies are typically seen in the perinatal period. Boys are not virilized and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycemic seizures, vomiting or symptoms of dehydration are common manifestations in the first few weeks of life and can be life threatening. Acute adrenal insufficiency is an emergency and can occur in some cases.

Etiology

This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis by mediating cholesterol transfer across the mitochondrial membrane.

Genetic counseling

The disease follows an autosomal recessive pattern of inheritance.

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