Craniopharyngioma and Bardet-Biedl syndrome. A case report.
Craniopharyngioma and Bardet-Biedl syndrome. A case report.
复制标题
颅咽管瘤和 Bardet-Biedl 综合征。
DOI：
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发表时间：
2001
期刊：
影响因子：
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通讯作者：
M. Aksu
中科院分区：
文献类型：
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作者：
C. T. Erel;E. Oral;L. Senturk;M. Aksu
背景
Bardet-Biedl综合征是一种罕见的疾病，与多种异常相关。
情况
一名18岁的女性被称为原发性闭经。经过体格、眼科、精神、激素及放射学检查，诊断为颅咽管瘤及Bardet-Biedl综合征。
结论
虽然Bardet-Biedl综合征女性性腺功能减退的发病机制尚不清楚，但应检查颅内结构，特别是下丘脑和垂体，以发现任何可能的异常。
BACKGROUND
Bardet-Biedl syndrome is a rare disorder and associated with a variety of anomalies.
CASE
An 18-year-old woman was referred with primary amenorrhea. Following physical, ophthalmologic, psychiatric, hormonal and radiologic examinations, the diagnosis of both craniopharyngioma and Bardet-Biedl syndrome was established.
CONCLUSION
Although the pathogenesis of hypogonadism in a woman with Bardet-Biedl syndrome remains unclear, cranial structures, especially the hypothalamus and pituitary gland, should be investigated to reveal any possible abnormalities.