IMPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is due to defects of steroid synthetic enzymes, which includes microsomal and mitochondrial P450s. P450 enzymes need coenzymes respectively. Microsomal P450s include 21-hydroxylase need P450 oxidoreductase which coded by POR. 21-hydroxylase deficiency (21-OHD), in which CYP21A2 is mutated or deleted, is the most common cause of CAH and results in underproduction of glucocorticoids and mineralocorticoids, and ove...

Introduction: We have previously reported strong association of cryptorchidism (CO) and hypospadias (HS) with a specific "AGATC" haplotype within a > 34 kb tight linkage disequilibrium (LD) block spanning five SNPs designated SNPs10–14 in the 3' region of ESR1 (JCEM 2006; Hum Reprod 208). Here, we report that a microdeletion (DESR1) identified from the specific haplotype constitutes a widely spread susceptibility factor for the...