Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases

Abstract

Congenital adrenal hyperplasia (CAH) occurring in twins is extremely rare. Most of these cases are of classic salt-wasting CAH due to 21-hydroxylase enzyme deficiency. Only two cases of the simple virilising form of CAH have been reported previously, with variable clinical presentations. In this report, we describe a pair of monozygotic twins with classic simple virilising form of CAH, who had a simultaneous onset and similar severity of clinical manifestations. Genetic analysis of the CYP21A2 gene in twin 1 showed the presence of two heterozygous pathogenic sequence variants, c.518T>A and c.955C>T in the CYP21A2 gene, consistent with a diagnosis of CAH due to 21-hydroxylase deficiency. We also present a brief review of previous cases of twins with CAH.

How the Birth of a Girl Child with Congenital Adrenal Hyperplasia Changed the Mother’s Life: A Case Study

“…There is elongated clitoris, which looks like a small penis and labia is wrinkled and fused which gives the appearance of scrotum. 4 These features make it difficult for health care professionals to decide the gender at birth or mistakenly declare it as male.…”