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Journal of Clinical Endocrinology & Metabolism, Vol 49, 391-395, Copyright © 1979 by Endocrine Society

ARTICLES

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

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

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.


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