KM Belaramani, LM Wong, NS Kwong

Abstract

Background: Klinefelter syndrome (KS) is a common but under-recognised condition caused by an additional X chromosome in the phenotypic male. Clinical features are non-specific and thus many patients remain undiagnosed until adulthood. Persistent androgen deficiency in KS patients may result in cardiovascular complications and has fertility implications, thus warranting earlier detection. Subjects: Nine Chinese boys with karyotype-confirmed non-mosaic Klinefelter syndrome. Methods: Retrospective review of the clinical features at presentation, baseline hormonal investigations and the treatment response was conducted. Results: The mean age at presentation was 14.3 years old. Six patients (66.7%) were referred to us from Student Health Service. Six patients (66.7%) had height percentile more than the 50th height percentile. Only two (22.2%) had gynaecomastia. All had pubic hair bit with a testicular volume of <3 ml on each side. All had elevated gonadotropins but the degree of hypogonadism was variable. All patients reported morning erection after treatment. Conclusion: Our report is the first study reviewing KS in Chinese children. The clinico-hormonal features at presentation were similar to that in Western series, except, gynaecomastia was not as common. Early recognition of KS is important to facilitate timely treatment and family planning. Student Health Service plays an important role in screening for KS.

背景：先天性睾丸發育不全綜合徵是一種常見的染色體異常綜合徵，是指在男性中出現兩條X染色體。它的臨床特點是非特異的，因此很多兒童患者直到成年才被確診。此類病人由於長期缺乏男性激素而導致心血管系統的併發症以及生殖異常，故而需儘早發現。研究物件：9例中國男童染色體核型確診為純型先天性睾丸發育不全綜合徵。方法：對臨床表現，基礎激素水準以及治療反應進行回顧性分析。結果：發病平均年齡為14.3歲。6名患者（66.7%）轉診自學生健康服務部門。6 例（66.7%）患者身高水準超過了第50 百分位。僅有2例患者（22.2%）存在乳腺發育。所有患者均出現了部分的陰毛同時雙側睾丸體積小於3 ml。此外，所有患者均出現促性腺激素水準的升高，但性腺功能減退的程度卻並不相同。患者治療後都出現了晨勃現象。結論：這是首篇針對區域內中國兒童的先天性睾丸發育不良綜合徵的回顧性研究。與西方人群相關研究相比除乳腺發育並不常見外，臨床激素特點十分的近似。早期發現對於及時治療以及進行家庭計畫十分重要。而學生健康服務則在篩查此病中起著關鍵的作用。