新生儿先天性肾上腺皮质增生症生化检查与遗传学检查研究进展

Research Advances in Biochemical and Genetic Testing for Congenital Adrenal Hyperplasia in Neonates

摘要: 背景：先天性肾上腺皮质增生症(CAH)是一种罕见但严重的遗传性内分泌紊乱疾病。新生儿期大多数CAH临床表现不典型，容易出现漏诊和误诊，而该疾病的诊断主要依赖于生化检查与遗传学检查。目的：该研究的目的是讨论CAH患者的诊断方法中的生化检查与遗传学检查，并简述最新进展。研究CAH的生化检查与遗传学检查，可以更早明确诊断，从而为CAH的患者提供更早期的治疗和管理方案，避免患儿出现严重的并发症。结论：对于临床表现为皮肤色素沉着、外生殖器异常、出现失盐症状等体征的患儿应怀疑CAH并完善17-OHP，ACTH等检查，若清晨直接测量或ACTH兴奋实验后17-OHD > 10 ug/L，可初步诊断为CAH，并尽早行基因检测，明确其临床类型，CAH诊断的金标准为CYP21A2基因突变的分子遗传学检测。

Abstract: Background: Congenital Adrenal Hyperplasia (CAH) is a rare but severe genetic endocrine disorder characterized by abnormal hormone secretion due to adrenal cortex hyperplasia. However, the clinical presentation of CAH in most newborns is atypical, leading to potential misdiagnosis and underdiagnosis. Therefore, accurate early diagnosis is crucial for newborns with congenital adrenal hyperplasia, and the diagnosis mainly relies on biochemical and genetic testing. Objective: The objective of this study is to discuss the biochemical and genetic testing methods in the diagnosis of CAH patients and provide a brief overview of the latest advances. Investigating the biochemical and genetic testing for CAH can lead to an earlier and more accurate diagnosis, thereby providing early treatment and management options for CAH patients and preventing the occurrence of severe complications. Conclusion: For infants exhibiting signs such as skin hyperpigmentation, abnormal external genitalia, and symptoms of salt wasting, suspicion of CAH should arise, and comprehensive evaluations including 17-OHP, ACTH, and other relevant tests should be conducted. If the morning direct measurement or ACTH stimulation test shows 17-OHP > 10 ug/L, a preliminary diagnosis of CAH can be made. Early genetic testing should be performed to determine the clinical type, and the gold standard for CAH diagnosis is molecular genetic testing for CYP21A2 gene mutations.