Familial Blepharophimosis: An Uncommon Marker of Ovarian Dysgenesis
Familial Blepharophimosis: An Uncommon Marker of Ovarian Dysgenesis
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家族性睑裂：卵巢发育不全的罕见标志
DOI：
10.1515/jpem.1995.8.2.127
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发表时间：
1995
影响因子：
1.4
通讯作者：
J. Chaussain
中科院分区：
文献类型：
--
作者：
M. Nicotine,;M. Bost;M. David;J. Chaussain
我们报告了来自两个家庭的六名年轻女性患者，她们被发现患有一种非常罕见的卵巢功能衰竭。性腺功能减退症是遗传性的，伴有眼部异常，包括先天性眼睑发育不良。在一个家族中，遗传是常染色体显性的，而在另一个家族中，遗传是新生突变。患者无其他畸形特征，智力正常。促卵泡激素和促黄体激素的血浆水平显著升高。腹腔镜检查的内生殖器进行了4例卵巢活检的情况下，结果是符合性腺发育不全。细胞遗传学研究表明不存在染色体缺陷。
We report on six young female patients from two families who were found to have a very rare form of ovarian failure. Hypogonadism is inherited with an ocular abnormality consisting of a congenital dysplasia of the eyelids. In one family inheritance is autosomal dominant and in the other it is a de novo mutation. The patients have no other dysmorphic features and are of normal intelligence. Plasma levels of follicle-stimulating and luteinizing hormones are significantly elevated. Examination of the internal genitalia by laparoscopy was performed in four cases with ovarian biopsy in one case; the results are compatible with gonadal dysgenesis. Cytogenetic studies indicate the absence of chromosomal defects.