<unk>  is a rare condition. Patients with<unk>  do not produce enough dihydrotestosterone (DHT), a hormone which has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Many patients have been found in several countries such as Dominican Republic, Papua New Guinea, Turkey, and Egypt. The cause of<unk>  is not clear. Researchs demonatrate that mutations in the SRD5A2 gene may play a role in the cause of the disease. Some patients with<unk>  may show female external genitalia in infancy. When the child grows up, she/he may show ambiguous genitalia, or a girl appears virilisation, or a boy does not appear virilisation. Usual complications are osteoporosis and psychosexual dysfunction. Diagnosis measure includes testosterone-to-dihydrotestosterone (T/DHT) level detecting, mutation analysis of the<unk> -alpha-reductase type 2 gene, tests of urinary ratios of various metabolites and images of cavitas pelvis. Treatments include hormone replacement therapy, vaginoplasty, feminizing genitoplasty and psychosocial support.
5-alpha-reductase deficiency
17 alpha-hydroxylase deficiency
17-beta-hydroxysteroid dehydrogenase deficiency
18-Hydroxylase deficiency
11β-hydroxylase deficiency
21-Hydroxylase Deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
21-hydroxylase deficiency