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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.

DOI:10.1002/ccr3.1128
PMID:29026561
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5628201/
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/1368/5628201/79e7658d2601/CCR3-5-1634-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1368/5628201/a1454399a8ec/CCR3-5-1634-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1368/5628201/1c2d6b489f62/CCR3-5-1634-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1368/5628201/79e7658d2601/CCR3-5-1634-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1368/5628201/a1454399a8ec/CCR3-5-1634-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1368/5628201/1c2d6b489f62/CCR3-5-1634-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1368/5628201/79e7658d2601/CCR3-5-1634-g003.jpg

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本文引用的文献

1
Primary hypergonadotrophic hypogonadism, alopecia totalis, and müllerian hypoplasia: a clinical study.
J Pak Med Assoc. 2009 Aug;59(8):571-3.
2
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review.原发性性腺功能减退、部分性脱发和苗勒管发育不全：第三例家系报告及文献复习
Am J Med Genet A. 2009 Mar;149A(3):501-4. doi: 10.1002/ajmg.a.32645.
3
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.常染色体隐性综合征，伴有脱发、性腺功能减退、进行性锥体外系疾病、白质病、感觉神经性耳聋、糖尿病和低胰岛素样生长因子1。
Am J Med Genet A. 2007 Jan 15;143A(2):149-60. doi: 10.1002/ajmg.a.31497.
4
Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings.
Am J Med Genet A. 2003 Jun 1;119A(2):214-7. doi: 10.1002/ajmg.a.20170.
5
Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?同胞中出现的伴有原发性性腺功能减退和脱发的进行性锥体外系疾病：一种新综合征？
Am J Med Genet. 1996 Mar 1;62(1):54-7. doi: 10.1002/(SICI)1096-8628(19960301)62:1<54::AID-AJMG11>3.0.CO;2-U.
6
Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.
Clin Genet. 1996 Jan;49(1):6-9. doi: 10.1111/j.1399-0004.1996.tb04316.x.
7
A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.
Am J Med Genet. 1983 Jul;15(3):497-506. doi: 10.1002/ajmg.1320150316.
8
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.一种性腺功能减退、脱发、糖尿病、智力发育迟缓、耳聋和心电图异常的综合征。
J Med Genet. 1983 Jun;20(3):216-9. doi: 10.1136/jmg.20.3.216.
9
A familial syndrome of deafness, alopecia, and hypogonadism.一种伴有耳聋、脱发和性腺功能减退的家族性综合征。
J Pediatr. 1973 Mar;82(3):461-5. doi: 10.1016/s0022-3476(73)80121-0.
10
Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females.
Am J Med Genet. 1985 Nov;22(3):619-22. doi: 10.1002/ajmg.1320220322.