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首页> 外文期刊>Case Reports in Obstetrics and Gynecology >Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea
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Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea

机译：秘书患者诊断患者与继发闭经的初级护理提供者诊断

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摘要

Perrault syndrome is a rare autosomal recessive genetic disorder characterized by sensorineural hearing loss and female gonadic eukaryotic dysgenesis. Here, we report the case of a 20-year-old female that presented to her internal medicine physician after suffering from secondary amenorrhea. After multiple negative pregnancy tests done with primary care physicians, a further evaluation by an internal medicine specialist showed an elevated FSH and LH as well as a small uterus and streak ovaries on transabdominal and transvaginal ultrasound. She was referred to the OB-GYN service, gonadal dysgenesis was diagnosed, and proper treatment was initiated. We intend to highlight this presentation of ovarian dysfunction and provide guidance for the proper diagnosis and management of the said disorder.
机译：秘鲁综合征是一种稀有的常血糖隐性遗传疾病，其特征是由传感器听力损失和女性毒蕈酸真核性孕膜功能。在这里，我们举报了一个20岁女性的案例，在患有二次闭经后呈现给她的内科医生。在用初级保健医生完成多次阴性妊娠试验后，内科专家的进一步评估显示了升高的FSH和LH，以及在经腹和经阴道超声中的小子宫和条纹卵巢。她被提到了ob-gyn服务，诊断了性腺妊娠功能，并开始治疗。我们打算突出卵巢功能障碍的介绍，并为上述病症的适当诊断和管理提供指导。

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