Pregnancy management of IVF-ET pregnancies in a patient with classical 21-hydroxylase deficiency: a case report and review of the literature

21-hydroxylase deficiency (21-OHD) is one of the most common subtypes of congenital adrenal hyperplasia (CAH). It is caused by mutations in CYP21A2, the gene encoding adrenal steroid 21-hydroxylase (P450c21)[1]. According to the genotype-clinical phenotype relationship, the degree of aldosterone and cortisol deficiency, and the severity of hyperandrogenism, 21-OHD is divided into two main subtypes: 1) classical 21-OHD, based on the degree of aldosterone deficiency, which is subdivided into salt wasting (SW, about 75%) and simple virilizing (SV, about 25%); 2) non-classical 21-OHD (NCCAH)[1,2].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Review article Source Type: research