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To summarize the clinical characteristics of two children with nonclassical 21 hydroxylase deficiency (NC-21OHD) due to variants of CYP21A2 gene promoter region. Clinical characteristics and the results of genetic testing were reviewed. The main clinical manifestations of the two children included precocious puberty with poor bone age/progression control and menstrual disorder with hirsutism. Patient 1 had compound heterozygous variants for -126CT, -113GA, -110TC and p.I173N; her mother was heterozygous for -126CT, -113G>
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