• PMID: 468973
• Gene Name: HSD17B3
• Condition: Male pseudohermaphrodite
• Association: 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 wel
• Population size: 1
• Population details: 1 male pseudohermaphrodite
• Age: 31 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male pseudohermaphrodite

Male pseudohermaphroditism secondary to 17 beta-hydroxysteroid dehydrogenase deficiency: gender role change with puberty

Imperato-McGinley J, Peterson RE, Stoller R, Goodwin WE.

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. FAU - Imperato-McGinley, J AU - Imperato-McGinley J FAU - Peterson, R E AU - Peterson RE FAU - Stoller, R AU - Stoller R