摘要
目的 分析以高孕酮血症为表现的不完全型17α-羟化酶缺乏症患者的临床特点,提高对该类疾病的临床认识和诊断治疗水平。方法 回顾分析医院2019年3月至2022年5月收治的8例以高孕酮血症为表现的不完全型17α-羟化酶缺乏症患者的临床表现、实验室检查、影像学表现及治疗效果。结果 8例17α-羟化酶缺乏症患者均为女性,年龄21~37岁,临床表现为原发不孕,7例患者平素月经规律,1例患者原发闭经,8例患者血压基本正常,无低钾血症。实验室检查结果显示孕酮高,7例患者经基因型检测获得明确诊断,6例高孕酮血症患者接受糖皮质激素治疗,并接受个体化促排卵方案,3例患者已获得良好妊娠结局。结论 不完全型17α-羟化酶缺乏症患者多以原发不孕、高孕酮血症为主要临床表现,应及时行基因检测明确诊断,早期治疗、及时给予糖皮质激素治疗辅助生殖可获得良好妊娠结局。
Objective To analyze the clinical characteristics of incomplete 17α-hydroxylase deficiency in patients with hyperprogestroemia,so as to improve the level of clinical understanding,diagnosis and treatment of this disease.Methods The clinical manifestations,laboratory tests,imaging findings and treatment effects of 8 patients with incomplete 17α-hydroxylase deficiency characterized by hyperprogestroemia admitted to the hospital from March 2019 to May 2022 were retrospectively analyzed.Results All the 8 patients with 17α-hydroxylase deficiency were female,aged 21-37 years,with clinical manifestations of primary infertility,7 patients with regular menstruation,1 patient with primary amenorrhea,8 patients with basically normal blood pressure and no hypokalemia.Laboratory examination showed high progesterone,7 patients were diagnosed by genotype test,6 patients with high hyperprogestroemia were given glucocorticoid therapy and individualized ovulation induction program,and 3 patients had a good pregnancy outcome.Conclusion Most patients with incomplete 17α-hydroxylase deficiency have primary infertility and hyperprogestroemia as the main clinical manifestations.Timely genetic testing should be performed to confirm the diagnosis,early treatment and timely glucocorticoid treatment assisted reproduction can achieve good pregnancy outcome.
作者
张颖辉
马晓君
张会娟
刘艳霞
ZHANG Yinghui;MA Xiaojun;ZHANG Huijuan;LIU Yanxia(Endocrinology Department,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《河南医学研究》
CAS
2024年第12期2149-2154,共6页
Henan Medical Research
基金
国家自然科学基金资助项目(82270927)。
