Iqbal Mahwish, Jamal Ayesha, Ahmed Ruqayyah A
Department of Obstetrics and Gynecology, Naseem Jeddah Medical Center, Jeddah, SAU.
Department of General Medicine and Surgery, Batterjee Medical College for Science and Technology, Jeddah, SAU.
Cureus. 2024 Oct 1;16(10):e70648. doi: 10.7759/cureus.70648. eCollection 2024 Oct.
Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females with a 46, XX karyotype. Due to its rarity and diagnostic challenges, herein we report on a 26-year-old woman who presented with secondary amenorrhea, congenital deafness in one ear, and progressive hearing loss in the other. Physical examination showed poorly developed breasts and normal external genitalia. Lab tests revealed high follicle-stimulating hormone (FSH) levels, indicating ovarian failure. Imaging revealed a small uterus and streak ovaries without follicular activity. Initially misdiagnosed with various overlapping syndromes such as Turner, Turner mosaic, and Swyer syndromes, she was started on oral contraceptive pills which induced menstruation and minimal breast development but caused mood swings and depression, leading to inconsistent use. Later, karyotyping revealed a normal 46,XX karyotype, shrouding the case in mystery. A few years later, after additional investigations, her hearing loss and reproductive disruptions were connected, and she was diagnosed with PRLTS. The absence of neurological symptoms suggests type I PRLTS. This case underscores the diagnostic challenges of PRLTS and highlights the importance of genetic testing for accurate diagnosis. It also emphasizes the need for a multidisciplinary approach and further research to improve understanding and management of this rare condition.
佩罗特综合征（PRLTS）是一种罕见的常染色体隐性疾病，其特征为两性均有感觉神经性听力丧失，而46, XX核型的女性存在卵巢功能障碍。由于其罕见性和诊断挑战，我们在此报告一名26岁女性，她出现继发性闭经、单耳先天性耳聋以及另一耳渐进性听力丧失。体格检查显示乳房发育不良，外生殖器正常。实验室检查显示促卵泡生成素（FSH）水平升高，提示卵巢功能衰竭。影像学检查显示子宫小，卵巢呈条索状且无卵泡活动。最初她被误诊为多种重叠综合征，如特纳综合征、特纳嵌合体综合征和斯维尔综合征，开始服用口服避孕药，该药诱导月经来潮并使乳房有轻微发育，但导致情绪波动和抑郁，致使服药不规律。后来，核型分析显示核型为正常的46,XX，使该病例陷入谜团。几年后，经过进一步检查，她的听力丧失与生殖功能紊乱被联系起来，她被诊断为佩罗特综合征。无神经症状提示为I型佩罗特综合征。该病例强调了佩罗特综合征的诊断挑战，并突出了基因检测对于准确诊断的重要性。它还强调了采取多学科方法以及进一步开展研究以增进对这种罕见疾病的理解和管理的必要性。
