Lanni Chen, Haihua Huang, Huijiao Zhang, Gaohui Zhu, Min Zhu
BACKGROUND: 3β-HSD deficiency is a rare type of congenital adrenal hyperplasia (CAH), which is caused by HSD3B2 gene mutations. OBJECTIVES: In order to improve the understanding and diagnosis of the disease, we analyzed and summarized the clinical characteristics, genetic variants and treatment for 3 children with 3β-HSD deficiency in this study. MATERIAL AND METHODS: A summary of the clinical data, hormone levels (17-hydroxyprogesterone, adrenocorticotropic hormone, cortisol, testosterone, dehydroepiandrosterone, androstenedione, renin, and aldosterone), therapeutic drugs, and gene sequencing results from 3 3β-HSD deficiency patients was created...
March 2021: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University