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

Pediatr Endocrinol Diabetes Metab. 2020;26(1):58-62. doi: 10.5114/pedm.2020.93248.

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 pres-ence 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.

Keywords: classic simple virilising form; disorders in twins; monozygotic twins; congenital adrenal hyperplasia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnosis
  • Adrenal Hyperplasia, Congenital / genetics*
  • Child, Preschool
  • Female
  • Humans
  • Mutation*
  • Steroid 21-Hydroxylase / genetics*
  • Twins, Monozygotic

Substances

  • CYP21A2 protein, human
  • Steroid 21-Hydroxylase

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency