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21-羟化酶缺乏症22例临床特征分析

Clinical characteristics of 21-hydroxylase deficiency in 22 cases
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摘要 目的探讨21-羟化酶缺乏症(21-OHD)的临床特点及诊治经验,提高临床医生对该病的认识及诊疗水平。方法选取新疆维吾尔自治区人民医院2014-2022年收治的21-OHD患者22例的临床资料,对不同类型21-OHD患者的临床资料进行分析,并对治疗转归进行随访。结果男女比例为7∶15,年龄13.0(4.8,23.0)岁。女性患者表现为阴蒂增大、色素沉着、月经稀发、闭经、多毛、痤疮、生长加速、不孕、呕吐;男性患者表现为性早熟、色素沉着、不育、恶心呕吐。失盐型患儿合并低血钠、高血钾、低血压、代谢性酸中毒等电解质紊乱及酸碱失衡改变。确诊患者均予以糖/盐皮质激素替代治疗,5例女性进行外生殖器矫形手术。随访10例患者中,5例女性患者月经来潮或经期逐渐恢复,但性激素水平改善不明显。结论新生儿有胃肠道症状伴电解质紊乱,女性高雄激素血症及男性儿童性早熟及成年男性不育患者,应高度警惕21-OHD,确诊后激素替代治疗能够改善预后。有条件者应尽量行基因检测,并定期随访,才能保证患者正常的青春期发育和良好的生育能力。 Objective To investigate the clinical characteristics,diagnosis,and treatment experience of 21-hydroxylase deficiency,with the goal of enhancing the clinical doctors'understanding and diagnosis and treatment of this disease.Methods A total of 22 patients with 21-hydroxylase deficiency who received treatment in People's Hospital of Xinjiang Uygur Autonomous Region from 2014 to 2022 were included in this study.The clinical data of patients with different types of 21-hydroxylase deficiency were analyzed.Their treatment outcomes were followed up.Results The male-to-female ratio was 7:15,and the average age of the patients was 13.0(4.8,23.0)years.Female patients exhibited clitoral enlargement,pigmentation,infrequent menstruation,amenorrhea,hirsutism,acne,accelerated growth,infertility,and vomiting.Male patients exhibited precocious puberty,pigmentation,infertility,nausea,and vomiting.Children with salt deficiency exhibited electrolyte disorders and acid-base imbalance changes,including hyponatremia,hyperkalemia,hypotension,and metabolic acidosis.All patients with confirmed 21-hydroxylase deficiency were treated with glucocorticoid/mineralocorticoid replacement therapy.Five female patients also underwent external genital correction surgery.Among the 10 patients who were followed up,5 female patients experienced regular or gradual resumption of menstruation,but the improvement in sex hormone levels was not significant.Conclusion Newborns with gastrointestinal symptoms accompanied by electrolyte disorders,women with hyperandrogenism,male children with precocious puberty,and adult men with infertility should be screened for 21-hydroxylase deficiency.Upon diagnosis,hormone replacement therapy should be conducted to improve prognosis.Genetic testing should be performed as much as possible and regular follow-ups should be conducted to ensure normal adolescent development and good fertility.
作者 王涵 陈园 Wang Han;Chen Yuan(Graduate School of Xinjiang Medical University,Urumqi 830001,Xinjiang Uygur Autonomous Region,China;Department of Endocrinology,People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,Xinjiang Uygur Autonomous Region,China)
出处 《中国基层医药》 CAS 2023年第11期1618-1623,共6页 Chinese Journal of Primary Medicine and Pharmacy
关键词 代谢缺陷 先天性 21-羟化酶缺乏症 肾上腺皮质增生 基因 类固醇21-羟化酶(CYP21) 高雄激素血症 糖皮质激素类 疾病特征 Metabolism,inborn errors 21-hydroxyulase deficiency Hyperplasia of adrenal cortex Genes,steroid 21 hydroxylase(CYP21) Hyperandrogenism Glucocorticoids Disease attributes
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