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对一名患有努南综合征的男性进行睾丸活检和激素研究。

Testicular biopsy and hormonal study in a male with Noonan's syndrome.

作者信息

Nistal M, Paniagua R, Pallardo L F

出版信息

Andrologia. 1983 Sep-Oct;15(5):415-25. doi: 10.1111/j.1439-0272.1983.tb00162.x.

DOI:10.1111/j.1439-0272.1983.tb00162.x
PMID:6359965
Abstract

The testicular biopsy study of a 17-year-old male with Noonan's syndrome revealed seminiferous tubules of reduced diameter with hypospermatogenesis. Many spermatocytes underwent degeneration and many spermatids developed abnormal. The Sertoli cells were similar to immature Sertoli cells. Fully differentiated Leydig cells were rare while precursor Leydig cells were numerous. Both gonadotropin and testosterone levels were low, and a lack of response to LH-RH as well as to clomiphene was found. The testicular biopsy performed at 20 years of age revealed a certain maturation of the seminiferous tubules which increased the germ cell number. The abnormalities in the spermatogenesis as well as the immature appearance of Sertoli cells continued. Leydig cells were more numerous and showed a certain development without reaching the normal pattern. Gonadotropin levels were normal while testosterone levels low. The response to LH-RH was increased and the absence of response to clomiphene persisted. These features suggest a delayed puberty.

摘要

对一名患有努南综合征的17岁男性进行的睾丸活检研究显示,生精小管直径减小,精子发生减少。许多精母细胞发生退化,许多精子细胞发育异常。支持细胞类似于未成熟的支持细胞。完全分化的睾丸间质细胞很少,而睾丸间质前体细胞很多。促性腺激素和睾酮水平均较低,并且发现对促黄体生成素释放激素(LH-RH)以及克罗米芬无反应。20岁时进行的睾丸活检显示生精小管有一定程度的成熟,生殖细胞数量增加。精子发生异常以及支持细胞的未成熟外观仍持续存在。睾丸间质细胞数量更多,并且有一定程度的发育,但未达到正常模式。促性腺激素水平正常,而睾酮水平较低。对LH-RH的反应增强,对克罗米芬无反应的情况仍然存在。这些特征提示青春期延迟。

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引用本文的文献

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Gonadal dysfunction in a man with Noonan syndrome from the variant: case report and review of literature.男性努南综合征变异型患者的性腺功能障碍:病例报告及文献复习。
Front Endocrinol (Lausanne). 2024 Apr 16;15:1354699. doi: 10.3389/fendo.2024.1354699. eCollection 2024.
2
Macrophages and Leydig cells in testicular biopsies of azoospermic men.无精症男性睾丸活检中的巨噬细胞和睾丸间质细胞。
Biomed Res Int. 2014;2014:828697. doi: 10.1155/2014/828697. Epub 2014 May 4.
3
Genital tract function in men with Noonan syndrome.努南综合征男性的生殖道功能。
J Med Genet. 1994 Jun;31(6):468-70. doi: 10.1136/jmg.31.6.468.