@Article{Muthuvel2020,
journal="Pediatric Endocrinology Diabetes and Metabolism",
issn="2081-237X",
volume="26",
number="1",
year="2020",
title="Wrodzony przerost nadnerczy z prostą wirylizacją u bliźniąt monozygotycznych: opis rzadkiego przypadku i przegląd wcześniejszych przypadków",
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.",
author="Muthuvel, Balasubramaniyan
and Gautam, Akanksha
and Pal, Rimesh
and Panigrahi, Inusha
and Dayal, Devi",
pages="58--62",
doi="10.5114/pedm.2020.93248",
url="http://dx.doi.org/10.5114/pedm.2020.93248"
}