Kallmann症候群とMarfan症候群との合併症例

A CASE OF KALLMANN'S SYNDROME ASSOCIATED WITH MARFAN'S SYNDROME

緒言

　Kallmann症候群とは，無嗅覚症または嗅覚低下症を伴う低ゴナドトロピン性性腺機能低下症をいうが，この疾患に，指趾の異常な奇形的伸長（Arachnodactylia）を主症状とし，しばしば同時に骨，腱，筋，心血管系などの中胚葉組織の発育異常を伴うMarfan症候群を合併した極めて稀な症例を経験したので報告する。

A 36-year-old man was admitted for evaluation of dyspnea, hyposmia and sexual infantilism. The body weight, the stature and the arm span were 51kg, 180cm, and 190cm, respectively, revealing dolichostenomelia. He also had arachnodactyly and funnel-breast. In further physical examination, there was no development of secondary sexual characteristics.

Baseline serum FSH, LH and testosterone were 3.1mIU/ml, 3.7mIU/ml and 0.69ng/ml, respec-tively. There was no significant response of gonadotropins to clomiphene citrate (100mg daily for 7 days) and gonadotropin releasing hormone (100γ of single injection subcutaneously).