极早产儿先天性肾上腺皮质增生症21-羟化酶缺乏症1例并文献复习

One Case of Congenital Adrenal Hyperplasia 21-Hydroxylase Deficiency in Very Premature Infants and Literature Review

摘要: 目的：报道1例胎龄28周 + 3天起病、CYP21A2基因变异导致的经典型先天性肾上腺皮质增生症。探讨该病的早期诊断及经验分享。方法：回顾青岛大学附属医院新生儿科收治的胎龄28周 + 3天极早产儿先天性肾上腺皮质增生症21-羟化酶缺乏症1例，并复习相关文献。结果：患儿系胎龄28周 + 3天出生的极早产儿，以全身皮肤色深、外阴肥大、色素沉着为主要临床表现，合并严重低钠血症和高钾血症，足跟血筛查17-羟孕酮244 nmol/L，外送激素示17-羟孕酮29.63 ng/ml，21-脱氧皮质醇17661.1 pg/mL。予氢化可的松、9-α氟氢可的松及口服氯化钠等治疗，好转出院。患儿高通量全外显子组基因检测显示CYP21A2基因突变，家系验证变异分别来自患儿父母。结论：不同于足月新生儿，早产儿因其特殊性，利用17-羟孕酮对21-羟化酶缺乏症进行早期诊断有一定难度，容易漏诊或误诊，21-脱氧皮质醇可能是比17-羟孕酮更特异的21-羟化酶缺乏症标志物。

Abstract: Objective: To report a case of classical congenital adrenal hyperplasia caused by CYP21A2 gene mutation at 28 weeks + 3 days of gestational age. To explore the early diagnosis and experience sharing of the disease. Methods: A case of congenital adrenal hyperplasia 21-hydroxylase deficiency in very premature infants with gestational age of 28 weeks + 3 days admitted to the Department of Neonatology, Affiliated Hospital of Qingdao University was reviewed and related literatures were reviewed. Results: The patient was a very premature infant born at 28 weeks + 3 days of gestational age. The main clinical manifestations were deep skin color, vulval hypertrophy and pigmentation. Severe hyponatremia and hyperkalemia were combined. Heel blood screening showed 244 nmol/L of 17-hydroxyprogesterone, 29.63 ng/ml of 17-hydroxyprogesterone and 17661.1 pg/mL of 21-deoxycorticosteroid. The patient was treated with hydrocortisone, 9-α fludrocortisone and oral sodium chloride, and was discharged after improvement. High-throughput whole exome gene detection showed CYP21A2 gene mutation in the child, and the family verification variation was from the parents of the child. Conclusion: Different from full-term neonates, it is difficult to use 17-hydroxyprogesterone for early diagnosis of 21-hydroxylase deficiency in premature infants due to its particularity, which is easy to be missed or misdiagnosed. 21-deoxycorticosteroid may be a more specific marker of 21-hydroxylase deficiency than 17-hydroxyprogesterone.