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- Title
Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.
- Authors
Muthuvel, Balasubramaniyan; Gautam, Akanksha; Pal, Rimesh; Panigrahi, Inusha; Dayal, Devi
- 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.
- Subjects
ADRENOGENITAL syndrome; TWINS; ENZYME deficiency
- Publication
Pediatric Endocrinology, Diabetes & Metabolism, 2020, Vol 26, Issue 1, p58
- ISSN
2083-8441
- Publication type
Article
- DOI
10.5114/pedm.2020.93248