Yin Yi, Huang Xinyue, Shi Yun, Huang Cheng, Yu Jian, Liu Qingsong
Department of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Department of Neonatology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
AJP Rep. 2025 Jul 18;15(3):e116-e123. doi: 10.1055/a-2647-4369. eCollection 2025 Jul.
Congenital adrenal hyperplasia (CAH), predominantly caused by 21-hydroxylase deficiency (21-OHD), arises from mutations in . This frequently occurs via gene conversion events between and its pseudogene, leading to impaired 21-hydroxylase activity and subsequent CAH manifestations.
We encountered a case of classic CAH, characterized by electrolyte imbalances (hyponatremia: 125.10 mmol/L; hyperkalemia: 7.06 mmol/L), hyperpigmentation, and markedly elevated endocrine marker levels (17-hydroxyprogesterone: 319.91 nmol/L; adrenocorticotropic hormone: 611.00 pg/mL) in a male neonate. Through genetic diagnostics, we identified a maternal-derived deletion of exons 1-7 combined with paternal-originated compound heterozygous mutations (c.293-13A/C>G in intron 2 and c.332_339 deletion in exon 3). Implementation of early genetic diagnosis revealed 21-OHD, and immediate therapeutic intervention was initiated within 11 days after the birth of the patient. Long-term treatment, including oral hydrocortisone, fludrocortisone, and 0.9% sodium chloride, provided effective clinical control and management, as determined by longitudinal follow-up monitoring of serum electrolyte profiles, endocrine function, and physical development.
This case provided critical insights into the genotype-phenotype correlations of classic 21-OHD. Our findings will contribute to precision medicine for managing this rare endocrine disorder during critical infancy periods, and emphasize the need for comprehensive genetic diagnostics and educational values for neonatal 21-OHD care.
先天性肾上腺皮质增生症（CAH）主要由21-羟化酶缺乏症（21-OHD）引起，源于 中的突变。这一情况常通过 与其假基因之间的基因转换事件发生，导致21-羟化酶活性受损及随后的CAH表现。
我们遇到一例经典型CAH病例，其特征为一名男婴出现电解质失衡（低钠血症：125.10 mmol/L；高钾血症：7.06 mmol/L）、色素沉着过度以及内分泌标志物水平显著升高（17-羟孕酮：319.91 nmol/L；促肾上腺皮质激素：611.00 pg/mL）。通过基因诊断，我们发现该患儿存在来自母亲的 外显子1 - 7缺失，以及来自父亲的复合杂合突变（内含子2中的c.293 - 13A/C>G和外显子3中的c.332_339缺失）。早期基因诊断显示为21-OHD，患儿出生后11天内即开始立即进行治疗干预。长期治疗包括口服氢化可的松、氟氢可的松和0.9%氯化钠，通过对血清电解质谱、内分泌功能和身体发育的纵向随访监测确定，该治疗提供了有效的临床控制和管理。
本病例为经典型21-OHD的基因型-表型相关性提供了关键见解。我们的研究结果将有助于在关键的婴儿期对这种罕见的内分泌疾病进行精准医疗，并强调新生儿21-OHD护理中全面基因诊断和教育的重要性。
