Perrault Syndrome - A Rare Case Report
Perrault Syndrome - A Rare Case Report
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DOI：
10.7860/jcdr/2015/10992.5641
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发表时间：
2015-03-01
影响因子：
0.2
通讯作者：
Narendrakumar, Veerasigamani
中科院分区：
文献类型：
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作者：
Geethalakshmi, Sampathkumar;Narendrakumar, Veerasigamani
Perrault综合征是一种罕见的疾病，包括纯性腺发育不全（46 XX）和感音神经性听力损失的女性和耳聋的影响男性。它是一种常染色体隐性遗传疾病。多年来，许多额外的特征，如马凡样体质和中枢神经系统的发现也被报道。在此我们报告一位18岁女性，因聋哑症及原发性闭经来本院就诊。经评估，患者患有高促性腺激素性性腺功能减退症、条纹性腺和正常核型（46 XX）。听力学评估显示感音神经性耳聋。患者开始接受激素替代治疗。她定期跟进。我们之所以介绍这个病例，是因为它的发病率很低，而且也是为了增加这种疾病不断扩大的临床范围。
Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings have also been reported. Herein we report a case of sporadic Perrault syndrome in 18-year-old female who presented to our hospital with deaf mutism and primary amenorrhoea. On evaluation, the patient had hypergonadotropic hypogonadism, streak gonads and a normal karyotype (46 XX). Audiologic evaluation showed sensorineural deafness. The patient was started on hormone replacement therapy. She is on regular follow up. We present this case for its infrequent incidence and also to add to the ever expanding clinical spectrum of this disease.