17-ketosteroid reductase deficiency in an adult patient without gynaecomastia but with female psychosexual orientation.

Abstract

A 24 years old male with pseudohermaphroditism due to a deficiency in 17-ketosteroid reductase activity is described. Plasma delta 4 is 21 times higher than normal for an adult male, delta 4/T is greater than 6, both E1 and F2 are elevated and E1/E2 = 3. There is very slight modification of delta 4 on administration of ACTH, dexamethasone, hCG and fluoxymesterone. Steroid concentrations in the spermatic veins and arteries confirm the testicular origin of the increased secretion of delta 4 and E1 and show a lower secretion by the cryptorchidic testis. In vitro testicular tissue incubation and fibroblast studies confirm the 17-ketosteroid reductase deficiency and rule out any other anomaly as the cause of the ambiguous genitalia. Psychologically the patient seemed to be identified with a female social and sexual role in spite of her advanced degree of virilization.

• Authors: M Millán, L Audí, J Martinez-Mora, M J Martinez de Osaba, J Viguera, E Esmatjes, M Peig, E Vilardell
• Journal: Acta endocrinologica (Acta Endocrinol (Copenh)) Vol. 102 Issue 4 Pg. 633-40 (Apr 1983) ISSN: 0001-5598 [Print] Denmark
• PMID: 6221497 (Publication Type: Case Reports, Journal Article)

Chemical References

• Estrone
• Testosterone
• Androstenedione
• Dehydroepiandrosterone
• Progesterone
• Luteinizing Hormone
• Follicle Stimulating Hormone
• Thyrotropin
• 17-Hydroxysteroid Dehydrogenases

Topics

• 17-Hydroxysteroid Dehydrogenases (deficiency)
• Adult
• Androstenedione (blood)
• Castration
• Dehydroepiandrosterone (blood)
• Disorders of Sex Development (enzymology)
• Estrone (blood)
• Follicle Stimulating Hormone (blood)
• Gynecomastia (enzymology)
• Humans
• Hypothalamo-Hypophyseal System (drug effects)
• Luteinizing Hormone (blood)
• Male
• Progesterone (blood)
• Testis (drug effects)
• Testosterone (blood)
• Thyrotropin (blood)