Endocrine Abstracts

The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male inter...

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...