title: Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: gender role change with puberty.
abstract: A 31-yr-old male pseudohermaphrodite is reported with 17 beta-hydroxysteroid dehydrogenase deficiency. Laboratory data revealed a plasma testosterone of 228 ng/100 ml, a plasma androstenedione of 620 ng/100 ml, and an abnormal androstenedione to testosterone ratio. Plasma estradiol was 4.6 ng/100 ml and plasma estrone was 22 ng/100 ml. This subject was born in a hospital, incontrovertibly declared to be a female, and unambiguously raised as a girl by his parents for the first 17 yr of his life. At age 14 yr, he was able to change to a male gender role with ease. As an adult, he is a well adjusted, happily married man with a successful professional career. Surgical correction of bilateral cryptorchidism and hypospadias was carried out at age 14 yr. At age 30 yr, he developed a teratocarcinoma-seminoma of the right testis with retroperitoneal node metastases. After orchiectomy and retroperitoneal node dissection, he was placed on chemotherapy and is presently free of metastases.
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000328:Adult; D000735:Androstenedione / Q000097:blood; D012734:Disorders of Sex Development / Q000097:blood / Q000150:complications* / Q000523:psychology; D004958:Estradiol / Q000097:blood; D004970:Estrone / Q000097:blood; D005783:Gender Identity; D006801:Humans; D007062:Identification, Psychological; D008297:Male; D011627:Puberty; D012727:Sex Characteristics; D013739:Testosterone / Q000097:blood
chemical_list: D004970:Estrone; D013739:Testosterone; D000735:Androstenedione; D004958:Estradiol; D015067:17-Hydroxysteroid Dehydrogenases