GNRHR and 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency: These include three patients (i.e., P09, P22, P28) with 5-alpha-reductase deficiency due to biallelic mutations of the SRD5A2 gene, and four patients with idiopathic hypogonadotropic hypogonadism due to mutations of KAL1 (i.e., P27, P32), PROKR2 (P03) or GNRHR (P13).