妊孕性を獲得できたゴナドトロピン欠損症と多発性外骨腫の合併例

SUCCESSFUL INDUCTION OF FERTILITY IN A MAN WITH GONADOTROPIN DEFICIENCY AND HEREDITARY MULTIPLE EXOSTOSES

　ゴナドトロピン欠損症に遺伝性多発性外骨腫を合併した27歳の男子。血中テストステロンは著しい低値を示したが，ヒト絨毛性コナドトロピン刺激試験では良好な反応が認められた。血中黄体形成ホルモン，卵胞刺激ホルモン値は正常下限であったが，LH放出ホルモン試験である程度の上昇反応を示した。この症例にゴナドトロピン療法を施行したところ，約1年後に造精機能も含め正常な二次性徴の発現が得られた。その後，患者は結婚し，妻の妊娠・出産に成功した。

We report a case of isolated gonadotropin deficiency associated with hereditary multiple exostoses. A 27 -year-old man revealed infantile external genitalia. The testicular volume, however, was 10 ml, and a few spermatozoa were detected in seminiferous tubules of the biopsy specimen. He had very low serum testoster-one level which rose to the normal range by hCG stimulation test. The serum LH and FSH values were also subnormal, which increased slightly by LH-RH adminisitration. In response to one year's treatment with hCG, he completed full sexual development including ejaculation of semen which contained motile sperms.