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三兄弟患白内障和睾丸功能衰竭。

Cataracts and testicular failure in three brothers.

作者信息

Lubinsky M S

出版信息

Am J Med Genet. 1983 Oct;16(2):149-52. doi: 10.1002/ajmg.1320160203.

Abstract

I report on three brothers with a syndrome of adolescent cataracts and infertility. Follicle-stimulating hormone (FSH) levels were elevated, suggesting testicular failure. Their parents were second cousins, suggesting autosomal recessive inheritance. Hypogonadism and cataracts occur in several syndromes, but with other findings. This association is probably more than fortuitous, and a common pathogenesis may be involved.

摘要

我报告了三例患有青少年白内障和不育症综合征的兄弟。促卵泡激素(FSH)水平升高,提示睾丸功能衰竭。他们的父母是二级表亲,提示常染色体隐性遗传。性腺功能减退和白内障在几种综合征中都有出现,但伴有其他症状。这种关联可能并非偶然,可能涉及共同的发病机制。

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