Clinical Analysis of 78 Patients with Non-Classical 21-Hydroxylase Deficiency

This study analyzed 78 females with nonclassical 21-hydroxylase deficiency (NC21OHD) to understand clinical characteristics, gene mutations, and hormone levels. The majority of patients experienced menstrual abnormalities and infertility, with 71.8% having polycystic ovaries and 66.7% showing adrenal hyperplasia. Pathogenic mutations were found in 78.2% of patients. The study found that higher basal 17-hydroxyprogesterone (17OHP) levels were associated with increased testosterone and progesterone levels, adrenal hyperplasia, and gene mutations. Low-dose glucocorticoid treatment significantly improved pregnancy and live birth rates in infertile patients. Comprehensive analysis is crucial for accurate diagnosis and treatment, as NC21OHD can lead to varying degrees of fertility decline.