伍德豪斯-萨卡蒂综合征原发性闭经的成功管理：病例报告与文献综述
The Successful Management of Primary Amenorrhea in Woodhouse-Sakati Syndrome: A Case Report and a Literature Review.
作者信息
Bakhsh Hanadi, Alqntash Norah, Almajed Ebtesam
机构信息
Clinical Sciences Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh 11564, Saudi Arabia.
Department of Obstetrics and Gynecology, King Abdullah bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh 11564, Saudi Arabia.
出版信息
Life (Basel). 2023 Oct 7;13(10):2022. doi: 10.3390/life13102022.
BACKGROUND
Woodhouse-Sakati syndrome (WSS) is a rare multisystemic disease resulting from an autosomal recessive gene mutation characterized by distinctive facial appearance, alopecia, impaired HbA1c, and hypogonadism.
PURPOSE
To present the successful management of primary amenorrhea in a WSS patient.
CASE PRESENTATION
We report a 19-year-old Saudi female referred to the gynecology clinic at the age of 16 as a case of primary amenorrhea. The patient underwent a genetic analysis, which revealed mutations in the DCAF17 gene, confirming the diagnosis of WSS. Treatment includes hormonal replacement therapy for the induction of puberty.
CONCLUSIONS
Careful and detailed medical and physical examination led to appropriate testing confirming the WSS diagnosis. Genetic tests for family members and the offspring of the patient are strongly recommended. Treatment timing and dosage are determined by the patient's individual needs, which take into consideration the patient's potential for growth, the family's readiness, and any comorbidities.
背景
伍德豪斯 - 萨卡蒂综合征（WSS）是一种罕见的多系统疾病，由常染色体隐性基因突变引起，其特征为独特的面部外观、脱发、糖化血红蛋白受损和性腺功能减退。
目的
介绍一名WSS患者原发性闭经的成功治疗案例。
病例介绍
我们报告一名19岁的沙特女性，16岁时因原发性闭经转诊至妇科诊所。患者接受了基因分析，结果显示DCAF17基因突变，确诊为WSS。治疗包括激素替代疗法以诱导青春期。
结论
仔细而详细的医学和体格检查导致进行适当检测以确诊WSS。强烈建议对患者的家庭成员和后代进行基因检测。治疗时机和剂量由患者的个体需求决定，这要考虑到患者的生长潜力、家庭的准备情况以及任何合并症。
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