Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis.
10.7499/j.issn.1008-8830.2504065
- Author:
Cai-Jun WANG
1
;
Ya-Wei ZHANG
;
Da-Peng LIU
1
;
Juan JIN
1
;
Zhao-Hui LI
1
;
Jing GUO
1
;
Yao-Dong ZHANG
;
Hai-Hua YANG
;
Wen-Qing KANG
1
Author Information
1. Neonatal Center, Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital/Zhengzhou Children's Hospital, Zhengzhou 450018, China.
- Publication Type:Journal Article
- Keywords:
Congenital adrenal hyperplasia;
Genetic characteristics;
Genotype;
Neonate
- MeSH:
Humans;
Adrenal Hyperplasia, Congenital/diagnosis*;
Male;
Female;
Retrospective Studies;
Infant;
Infant, Newborn
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(11):1367-1372
- CountryChina
- Language:Chinese
-
Abstract:
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.
