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Clinical characteristics and mutation analysis of Chinese children with 17α-hydroxylase deficiency: a report on three cases

   
@article{TP153054,
	author = {Minfei He and Hong Chen and Yudan Zhao and Shuxia Ding and Ruimin Chen and Chunlin Wang},
	title = {Clinical characteristics and mutation analysis of Chinese children with 17α-hydroxylase deficiency: a report on three cases},
	journal = {Translational Pediatrics},
	volume = {15},
	number = {4},
	year = {2026},
	keywords = {},
	abstract = {17α-hydroxylase deficiency (17-OHD) is an uncommon type of congenital adrenal hyperplasia. It manifests as hypokalemia, hypertension, and hypergonadotropic hypogonadism and arises from a mutation in the CYP17A1 (cytochrome P450 17A1) gene. Diagnosis for children with 17-OHD remains challenging, and the means to arriving at a timely diagnosis are needed.},
	issn = {2224-4344},	url = {https://tp.amegroups.org/article/view/153054}
}