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原发性性腺功能减退、部分性脱发和苗勒管发育不全:第五个家系报告及文献复习

Primary hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a fifth family and review.

作者信息

Al-Obaidi Ruqayah G Y, Al-Musawi Bassam M S

机构信息

Medical Genetics Genetic Counseling Clinic & Laboratory The Teaching Laboratories Baghdad Medical City Baghdad Iraq.

Medical Genetics College of Medicine University of Baghdad Baghdad Iraq.

出版信息

Clin Case Rep. 2017 Aug 24;5(10):1634-1638. doi: 10.1002/ccr3.1128. eCollection 2017 Oct.

Abstract

Primary hypogonadism combined with Müllerian hypoplasia and partial alopecia are common features of this syndrome, which was reported only in four earlier families from areas where consanguineous marriage is prevalent. An autosomal recessive pattern of inheritance was suggested earlier and is supported by this report.

摘要

原发性性腺功能减退合并苗勒氏管发育不全和部分脱发是该综合征的常见特征,此前仅在近亲结婚盛行地区的四个家族中报道过。早期有人提出该综合征为常染色体隐性遗传模式,本报告支持这一观点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1368/5628201/a1454399a8ec/CCR3-5-1634-g001.jpg

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