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21歳,男性.某医にて外陰部の異常を指摘され,当科を紹介受診.二次性徴の遅延と嗅覚異常を認めた.嗅覚検査にて嗅覚完全欠如.内分泌学的検査にて,黄体ホルモン,卵胞刺激ホルモン,血中テストステロン低値.LH-RHテストに反応良好.hCGテストに低反応であった.以上より,嗅覚異常を伴う低ゴナドトロピン性性腺機能低下症,Kallmann症候群と診断した.
A 21-year-old man visited Nihon University, Surugadai Hospital with the chief complaint of a small penis and testis. Retardation of secondary sexual characteristics and anosmia were found. In endocrinological study, Iuteinizing hormone (LH) was low, follicle stimulating hormone (FSH) was at lower level of the normal range, but the response of LH-releasing hormone (RH) was good. The plasma level of testosterone was low, and the response to human chorionic gonadotropin (hCG) was poor. The diagnosis of Kallmann's syndrome was made since he had hypogonadotropic hypogonadism with anosmia.
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