engleski

Nonclassic 21-hydroxylase deficiency in Croatia

Background/Aims:This is the first report of nonclassic congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21-OHD) in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Methods: Genetic analysis were performed on 18 Croatian patients with nonclassic CAH owing to 21-hydroxylase deficiency using allele-specific PCR. ACTH stimulation testing and HLA typing were used to evaluate patients hormonally. Results:Genetic analysis revealed a variety of mutations in individuals with different clinical symptoms, including precocious pubarche, hirsutism, dysmenorrhea, subfertility and clitoromegaly. Serum stimulated 17-OHP levels indicated that all patients fell within the acceptable range for nonclassic congenital adrenal hyperplasia. Conclusion: Clinical and genetic analysis confirmed nonclassic 21-hydroxylase deficiency in our Croatian sample of 8 males and 10 females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients.

Nonclassic congenital adrenal hyperplasia; prenatal treatment; prenatal diagnosis; ambiguous genitalia; 21-hydroxylase deficiency; Croatia

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