Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

In 1999, a study involving 83 Slovenian hyperandrogenic women was conducted to assess the incidence of 21-hydroxylase deficiency by examining the CYP21 gene, using ACTH stimulation tests, and HLA typing. The study found that none of the women had non-classical 21-hydroxylase deficiency. ACTH stimulation tests suggested that 12 out of 81 patients (14.8%) might be carriers due to elevated 17-OHP levels, but only three of these (25%) were confirmed as carriers through genetic analysis. Additionally, seven out of 69 patients (10.1%) with normal 17-OHP levels were also carriers. In total, 11 carriers were identified, with various mutations and gene conversions. The study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations are reliable for determining carrier status of 21-hydroxylase deficiency, and that molecular analysis of the CYP21 gene is essential for accurate screening.