eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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1/2020
vol. 26
 
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abstract:
Case report

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

Balasubramaniyan Muthuvel
1
,
Akanksha Gautam
2
,
Rimesh Pal
2
,
Inusha Panigrahi
3
,
Devi Dayal
1

1.
Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Educa-tion and Research, India
2.
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, India
3.
Genetic Metabolic Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, India
Pediatr Endocrinol Diabetes Metab 2020; 26 (1): 58–62
Online publish date: 2020/03/31
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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:

congenital adrenal hyperplasia, classic simple virilising form, disorders in twins, monozygotic twins

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