青春期起病的17α-羟化酶/17，20-碳链裂解酶缺陷症一例及文献复习

Pubertal Onset of 17α-Hydroxylase/17, 20-Lyase Deficiency: A Case Report and Literature Review

摘要: 目的：探讨17α-羟化酶/17，20-碳链裂解酶缺陷症(17α-hydroxylase/17, 20-lyase deficiency, 17-OHD)患者的临床表现、实验室检查、治疗及预后。方法：回顾性分析1例初期疑诊为原发性醛固酮增多症的17-OHD患者的临床资料，并复习相关文献。结果：患儿，社会性别女，14岁9月时剧烈运动后出现肌肉酸痛、乏力纳差并进行性加重，外院测血压峰值180/110mmHg，血钾及卧位肾素水平降低，卧位醛固酮/肾素浓度升高，肾上腺CT示双侧肾上腺增生，疑诊原发性醛固酮增多症。15岁2月时因无月经初潮至我院就诊发现晨8点促肾上腺皮质激素、孕烯醇酮、11-脱氧皮质酮、皮质酮升高，晨8点皮质醇、睾酮和雌二醇水平降低。全外显子分析发现患儿CYP17A1基因存在c985_987delTACinsAA和c.979_981delAAG杂合变异，均为已知致病性突变，确诊17α-羟化酶缺陷症。经激素替代治疗和降压药物应用，患儿目前血压控制良好。结论：对于影像学发现双侧肾上腺增生的高血压患者，即使青春期以后甚至成年发病，仍应警惕先天性肾上腺皮质增生症的可能。

Abstract: Objective: To investigate the clinical manifestations, laboratory features, treatment and prognosis of patients with 17α-hydroxylase/17, 20-lyase deficiency. Methods: Analyze the clinical data of a patient with 17α-hydroxylase/17,20-lyase deficiency retrospectively who was initially suspected of primary aldosteronism and conduct a review in conjunction with relevant literature. Results: The patient was a girl who suffered from progressive myalgia, fatigue and poor appetite after strenuous exercise at the age of 14 years and 9 months. The peak blood pressure was 180/110 mmHg, which was measured in the external hospital, and the blood potassium and recumbent renin levels decreased, while the recumbent aldosterone/renin concentration increased. Adrenal CT showed bilateral adrenal hyperplasia, and then primary aldosteronism was suspected. She came to our hospital because of amenorrhoea at the age of 15 years and 2 months. Then we found that the levels of adreno-cortico-tropic-hormone at 8 am, pregnenolone, 11-deoxycorticosterone and corticosterone increased while the levels of cortisol at 8 am, testosterone and estradiol decreased. The whole exome sequencing showed that there were compound heterozygous mutations of c985_987delTACinsAA and c.979_981delAAG in CYP17A1 gene in this patient, both of which were known as pathogenic mutations, and she was diagnosed as 17α-hydroxylase deficiency. The blood pressure of the patient is well controlled after hormone replacement therapy and the application of hypotensive drugs. Conclusion: For hypertensive patients with bilateral adrenal hyperplasia, we should pay attention to the possibility of rare subtypes of congenital adrenal hyperplasia even though they come to clinic in adolescence or adulthood.