Objectives: 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.
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。.
Keywords: Congenital adrenal hyperplasia; Genetic characteristics; Genotype; Neonate.