HYPERGONADOTROPIC HYPOGONADISM, PROGRESSIVE EARLY-ONSET SPINOCEREBELLAR ATAXIA, AND LATE-ONSET SENSORINEURAL HEARING LOSS: CASE REPORT AND LITERATURE REVIEW

被引：2

作者：

Sarikaya, E. ^{[1
]}

Ensert, C. G. ^{[2
]}

Gulerman, H. C. ^{[1
]}

机构：

[1] Zekai Tahir Burak Womens Hlth Res & Educ Hosp, Ctr Reprod Med, TR-06230 Ankara, Turkey

[2] Zekai Tahir Burak Womens Hlth Res & Educ Hosp, Dept Neurol, TR-06230 Ankara, Turkey

来源：

BALKAN JOURNAL OF MEDICAL GENETICS | 2011年 / 14卷 / 02期

关键词：

Cerebellar ataxia; Hearing loss; Sensorineural; Premature ovarian failure; MARINESCO-SJOGREN-SYNDROME; CAUSE OVARIAN DYSGENESIS; PERRAULT-SYNDROME; CEREBELLAR-ATAXIA; USHER-SYNDROME; FRAGILE-X; MUTATIONS; DISEASE; DEAFNESS; DEFICIENCY;

D O I：

10.2478/v10034-011-0050-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The association of ataxia, hypergonadotropic hypogonadism and hearing loss is extremely rare. Considerable heterogeneity exists in the literature of the neurological manifestations, age of onset, clinical severity and associated abnormalities. We describe a 24-year-old woman with secondary hypergonadotropic amenorrhea, early-onset progressive spinocerebellar ataxia (SCA), late-onset sensorineural hearing loss and normal intelligence and compare it with reported cases.

引用

页码：77 / 88

页数：12

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