努南综合征男性的生殖道功能。
Genital tract function in men with Noonan syndrome.
作者信息
Elsawi M M, Pryor J P, Klufio G, Barnes C, Patton M A
机构信息
Department of Medical Genetics, St George's Hospital Medical School, London, UK.
出版信息
J Med Genet. 1994 Jun;31(6):468-70. doi: 10.1136/jmg.31.6.468.
In order to study the pattern of male fertility in Noonan syndrome, and its potential implications for genetic counselling, the genital tract function was studied in 11 adult males with Noonan syndrome. Bilateral testicular maldescent occurred in six. The mean testicular volume was 21 (SD 4) ml. The stretched flaccid penile length was 11.4 (SD 1.2) cm. Puberty was delayed in three. Four of the men had fathered children. The LH and testosterone levels were essentially normal in all men, while the FSH levels were grossly raised in the group with testicular maldescent, with the exception of one man. Semen samples were obtained from five men, and azoospermia or oligozoospermia was present in four of them. Sexual function is not affected in men with Noonan syndrome, but the onset of sexual activity was delayed in men with late onset of puberty. Bilateral testicular maldescent appears to be the main factor contributing to impairment of fertility in men with Noonan syndrome.
为了研究努南综合征男性的生育模式及其对遗传咨询的潜在影响，对11名成年努南综合征男性的生殖道功能进行了研究。6例出现双侧睾丸未降。平均睾丸体积为21（标准差4）ml。阴茎疲软时拉伸长度为11.4（标准差1.2）cm。3例青春期延迟。4名男性育有子女。所有男性的促黄体生成素（LH）和睾酮水平基本正常，而在睾丸未降组中，除1名男性外，促卵泡生成素（FSH）水平显著升高。从5名男性中获取了精液样本，其中4名存在无精子症或少精子症。努南综合征男性的性功能不受影响，但青春期延迟的男性性活动开始时间延迟。双侧睾丸未降似乎是导致努南综合征男性生育能力受损的主要因素。
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