TY - JOUR JO - Pediatric Endocrinology Diabetes and Metabolism SN - 2081-237X VL - 26 IS - 1 PY - 2020 ID - Muthuvel2020 TI - Wrodzony przerost nadnerczy z prostą wirylizacją u bliźniąt monozygotycznych: opis rzadkiego przypadku i przegląd wcześniejszych przypadków AB - 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. AU - Muthuvel, Balasubramaniyan AU - Gautam, Akanksha AU - Pal, Rimesh AU - Panigrahi, Inusha AU - Dayal, Devi SP - 58 EP - 62 DA - 2020 DO - 10.5114/pedm.2020.93248 UR - http://dx.doi.org/10.5114/pedm.2020.93248 ER -