Korean J Obstet Gynecol.  1997 Apr;40(4):896-901.

A case of male Pseudohermaphroditism due to 17alpha-Hydroxylase Deficiency

• Kim JH
• Choi SY
• Kim JH
• Kim JH
• Rha JG
• Kang CS

Abstract

A 21-year-old phenotypic female with 46,XY genotype presented with primary amenorrhea, headache, absence of secondary sex characteristics, and hypertension.Further evaluation confirmed male pseudohermaphroditism having no nterus and adnexase.After basic hormonal study and ACTH stimulation test, we concluded 17alpha-hydroxylase deficiency. Owing to the high risk of gonadal neoplasia in XY gonadal streaks, prophylactic removal of the steaks is recommended. Traditionally this procedure has been performed by laparotomy, but in this case laparoscopic gonadctomy was performed. Following treatment with hydrocrtisone, potassium, progesterone, 11-deoxycorticosterone, corticosterone and urinay pregnanediol levels were normalized. normal blood pressure measurements were achieved during treatment with hydrocortisone and estrogen with the patient. We report this case with a breif review of the literatures.

Keyword

17alpha-hydroxylase; Male pseudohermaphroditism; Congenital adrenal hyperplasia

MeSH Terms

46, XY Disorders of Sex Development*
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Amenorrhea
Blood Pressure
Corticosterone
Estrogens
Female
Genotype
Gonads
Headache
Humans
Hydrocortisone
Laparotomy
Male*
Potassium
Pregnanediol
Progesterone
Sex Characteristics
Young Adult
Adrenocorticotropic Hormone
Corticosterone
Estrogens
Hydrocortisone
Potassium
Pregnanediol
Progesterone