目的 探讨先天性肾上腺皮质增生症（congenital adrenal hyperplasia, CAH）患儿的临床与遗传学特征。 方法 回顾性分析2017年1月—2024年12月河南省儿童医院新生儿中心诊断的63例CAH患儿的临床资料、实验室检查及基因检测结果。 结果 63例患儿中，平均就诊日龄（21±14）d，生物学男性29例（46%），女性34例（54%）。临床表现以体重不增或下降（92%，58/63）、食欲差（84%，53/63）、皮肤色素沉着（83%，52/63）和女性外生殖器畸形（100%，34/34）为主。实验室检查示低血钠（87%，55/63）、高血钾（68%，43/63）、代谢性酸中毒（68%，43/63），17-羟孕酮（92%，58/63）、睾酮（89%，56/63）及促肾上腺皮质激素（81%，51/63）水平显著升高。49例行基因检测，CYP21A2基因变异占90%（44/49），以c.293-13A/C>G（33%，30/91）和大片段基因缺失/转换变异（29%，26/91）最常见；其次为STAR基因（8%，4/49）和HSD3B2基因（2%，1/49）。57例经激素替代治疗后电解质紊乱纠正，17-羟孕酮、促肾上腺皮质激素及睾酮水平显著下降（P<0.001）。 结论 新生儿或小婴儿期起病的CAH患儿以电解质紊乱、外生殖器畸形及激素水平异常为主要特征；基因检测可明确分型，其中CYP21A2型以c.293-13A/C>G为热点变异，基因检测对CAH早期诊断及遗传咨询具有重要临床价值。

Objective To study the clinical and genetic characteristics of children with congenital adrenal hyperplasia (CAH). Methods Clinical data, laboratory findings, and genetic test results of 63 children diagnosed with CAH at Henan Children's Hospital from January 2017 to December 2024 were retrospectively reviewed. Results Of the 63 patients, the mean age at the first visit was (21 ± 14) days; 29 (46%) were of male sex and 34 (54%) were of female sex. The predominant clinical manifestations were poor weight gain or weight loss (92%, 58/63), poor feeding (84%, 53/63), skin hyperpigmentation (83%, 52/63), and female external genital anomalies (100%, 34/34). Laboratory abnormalities included hyponatremia (87%, 55/63), hyperkalemia (68%, 43/63), metabolic acidosis (68%, 43/63), and markedly elevated 17-hydroxyprogesterone (92%, 58/63), testosterone (89%, 56/63), and adrenocorticotropic hormone (81%, 51/63). Among 49 patients who underwent genetic testing, CYP21A2 variants were identified in 90% (44/49), with c.293-13A/C>G (33%, 30/91) and large deletions/gene conversions (29%, 26/91) being the most frequent; STAR (8%, 4/49) and HSD3B2 (2%, 1/49) variants were also detected. Following hormone replacement therapy, electrolyte disturbances were corrected in 57 cases, with significant reductions in 17-hydroxyprogesterone, adrenocorticotropic hormone, and testosterone levels (P<0.001). Conclusions CAH presenting in neonates or young infants is characterized by electrolyte imbalance, external genital anomalies, and abnormal hormone levels. Genetic testing enables definitive subtype classification; in CYP21A2-related CAH, c.293-13A/C>G is a hotspot variant. These findings underscore the clinical value of genetic testing for early diagnosis and genetic counseling in CAH. Citation:Chinese Journal of Contemporary Pediatrics, 2025, 27(11): 1367-1372