Question

Which condition is associated with congenital adrenal hypoplasia?

• A. Male pseudohermaphroditism
• B. Female pseudohermaphroditism
• C. True pseudohermaphroditism
• D. Sequential pseudohermaphroditism

Hint:

DAX-1 loss means deficient androgens in a genetic male.

Answer 1

The Correct Option is A

Step 1: Define the disorder. X-linked congenital adrenal hypoplasia (AHC) is a rare developmental disorder of the adrenal cortex caused by deletion or mutation of the DAX-1 gene.

Step 2: Role of DAX1. DAX1 is necessary for differentiation of the definitive adult adrenal cortex and is also important for normal development of the gonadal axis.

Step 3: Link to the genital phenotype. Disruption of this gene leads to inadequate androgen secretion or inappropriate androgen action, which produces male pseudohermaphroditism, a genetically male individual with under-virilised genitalia.

Step 4: Why the distractors are wrong. Female pseudohermaphroditism is typically due to congenital adrenal hyperplasia, not hypoplasia. True and sequential pseudohermaphroditism are not the recognised associations of AHC.