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ETV5 mutations: Revisiting Sertoli cell only syndrome

机译:ETV5突变:重温仅支持细胞

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摘要

Infertility, despite its high incidence and long history in human society, is still somewhat of a mysterious health condition. Naturally, semen defects like low sperm concentration, low sperm motility, and poor sperm morphology are associated with reduced fertility. However, normal semen parameters are not a guarantee for normal fertility. Among semen defects, azoospermia (absence of germ cells in the semen) and Sertoli cell only syndrome (SCOS, absence of germ cells in the semen and testis, also known as Spermatogenic Failure) are the most serious pathological conditions. Currently, genetic factors are considered to play an important role in male factor infertility (1). However, for many years the medical and general public perception was that chromosomal aberrations and Y-chromosome microdeletions were mainly responsible for azoospermia and oligozoospermia (2, 3).
机译:尽管不孕症在人类社会中发病率高,历史悠久,但仍是一种神秘的健康状况。自然,精液缺陷如低精子浓度,低精子活力和精子形态差与生育能力下降有关。但是,正常的精液参数不能保证正常的生育能力。在精液缺陷中,无精子症(精液中没有生殖细胞)和仅支持细胞的综合征(SCOS,精液和睾丸中没有生殖细胞,也称为生精失败)是最严重的病理状况。当前,遗传因素被认为在男性因素不育中起重要作用(1)。但是,多年来医学界和公众一直认为,染色体畸变和Y染色体微缺失是无精症和少精症的主要原因(2,3)。

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