男性仮性半陰陽を呈した17α-Hydroxylase欠損症の一例

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A 17-year-old youth was admitted because of proteinuria noted during a routine examination at his high school. His parents and three siblings were living in good health and there was no familial tendency to hypertension and no consanguinity. On physical examination, he was 161cm in height and weighed 43Kg, and his facial expression was female-like. Neither webbed neck nor cubitus valgus was noticed. Severe hypertension ranging from 190/120 to 230/130 was noted. No axillary or pubic hair was present, and the breasts were prepubertal in size. A gynecological examination revealed the presence of labia and vagina. Laboratory findings on admission were summarized as follows : The urine gave a (-) - (+) test for protein, renal function was revealed as normal, serum potassium ranged from 3.2 to 4.2mEq/L, the specimen of arterial blood showed pH 7.421, and an electrocardiogram revealed left ventricular hypertrophy and U wave changes in leads V2, V3 V4. X-rays showed a bone age of 12 years, and chromosome analysis revealed a karyo type of 46, XY. Endocrinological studies confirming the presence of a 17α-hydroxylase deficiency were summarized as follows : 1) Plasma ACTH was markedly elevated. 2) Plasma renin activity was markedly suppressed showing no response to exercise. 3) Plasma progesteron, plasma DOC and plasma corticosteron were extremely high. In contrast, plasma aldosteron was extremely low. 4) Plasma 17α-OH progesteron and plasma cortisol were markedly reduced. Urinary excretion of 17-OHCS was extremely low. 5) Plasma testosteron and urinary 17-KS were markedly reduced. The patient was treated with 2mg then 1mg dexamethasone daily for half a year. After one month of therapy, the blood pressure was down to 160/100mmHg, and the serum potassium had risen from 3.2mEq/liter to 5.6mEq/liter. Plasma progesteron, plasma DOC, plasma corticosteron and plasma ACTH decreased to a normal level. Subsequently suppressed plasma renin activity elevated to a normal value. After 6 weeks of this treatment, a laparotomy was performed. Ovaries and uterus were absent, but bilateral testes were found at the external inguinal ring. Microscopic examination of the testis showed Sertoli cell adenoma. We have reported here a case of 17a-hydroxylase deficiency with male pseudohermaphroditism and discussed the endocrinological data and histological findings of the testis.
日本内分泌学会の論文

男性仮性半陰陽を呈した17α-Hydroxylase欠損症の一例

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