Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil.
J Pediatr (Rio J). 2012 Jul;88(4):323-7. doi: 10.2223/JPED.2208.
To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group.
The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at first visit, ratio of arm span to height, pubic hair, gynecomastia, testicular volume, luteinizing hormone (LH), follicle stimulating hormone (FSH), total testosterone (T), and spermiogram.
During the study period, 33 patients were diagnosed with Klinefelter syndrome (KS+) and 72 were not (KS-). Out of all KS cases, only seven (21.2%) were diagnosed before 20 years old and two (6.1%) before 10 years old. Age at first consultation (in years) was similar in both groups (KS+ = 31.3±12.9 and KS- = 27.6±12.1), as were ratio of arm span to height and frequency of gynecomastia. However, in KS+ patients, pubic hair was less developed, testicular volume was smaller and testosterone levels were lower, while LH and FSH levels and frequency of azoospermia were higher.
Klinefelter syndrome is both an under and late diagnosed condition. The most important data for diagnosis are testicular volume, hormone levels and presence of azoospermia in spermiogram, especially in puberty and adult life.
确定能根据年龄区分克氏综合征（KS）患者的临床和实验室数据。
该研究纳入了 1989 年 1 月至 2011 年 12 月在一所大学医院进行核型检查的所有低促性腺激素血症、男性乳房发育症和/或不育症患者，共 105 例。回顾性分析了以下数据：首次就诊年龄、臂展与身高比、阴毛、男性乳房发育症、睾丸体积、黄体生成素（LH）、卵泡刺激素（FSH）、总睾酮（T）和精子分析。
在研究期间，33 例患者被诊断为克氏综合征（KS+），72 例患者未被诊断为 KS（KS-）。所有 KS 病例中，只有 7 例（21.2%）在 20 岁之前被诊断，2 例（6.1%）在 10 岁之前被诊断。首次就诊年龄（岁）在两组之间相似（KS+ = 31.3±12.9 和 KS- = 27.6±12.1），臂展与身高比和男性乳房发育症的发生率也相似。然而，KS+患者的阴毛发育不良，睾丸体积较小，睾酮水平较低，而 LH 和 FSH 水平和无精子症的发生率较高。
克氏综合征不仅诊断不足，而且诊断较晚。诊断的最重要数据是睾丸体积、激素水平和精子分析中无精子症的存在，尤其是在青春期和成年期。
