Sampathkumar Geethalakshmi, Veerasigamani Narendrakumar
Assistant Professor, Department of General Medicine, Aarupadai Veedu Medical College, Puducherry, Formerly Junior Resident, Government Stanley Medical College Hospital , Chennai, India .
Formerly Junior Resident, Department of ENT, Madras Medical College and Rajiv Gandhi Government General Hospital , Chennai, India .
J Clin Diagn Res. 2015 Mar;9(3):OD01-2. doi: 10.7860/JCDR/2015/10992.5641. Epub 2015 Mar 1.
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.
佩罗特综合征是一种罕见疾病，其特征为女性患者存在单纯性腺发育不全（46 XX）和感音神经性听力损失，而男性患者仅表现为耳聋。它是一种常染色体隐性疾病。多年来，还报告了许多其他特征，如类马凡氏体型和中枢神经系统表现。在此，我们报告一例18岁女性散发性佩罗特综合征病例，该患者因聋哑和原发性闭经前来我院就诊。经评估，患者存在高促性腺激素性性腺功能减退、条索状性腺以及正常核型（46 XX）。听力评估显示有感音神经性耳聋。患者开始接受激素替代治疗。她正在定期随访。我们展示该病例是因其发病率低，同时也是为了丰富这种疾病不断扩展的临床谱。
