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ABSTRACT
5a-reductase deficiency results from reduced conversion of testosterona to the more potent androgen, dihydrotestosterone. Alterations in 5a-reduc1ase type-2 gene are responsible from the syndrome. Four distinct mutations are reported to cause 5ccreductase deficiency in the Turkish population: A M157, G196S, L55Q and A P251 plus frameshift. Genetic diversity of the observed mutations disproves a founder effect for the whole country. A common ancestor may only be responsible for cases that live or migrate from isolated geographic areas in Turkey. The presence of high rate of consanguinity in affected subjects mandates a public education campaign against intrafamily-marriages. With the identification of etiological molecular genetic defects, genetic counselling and prenatal diagnosis should be offered to affected individuals.
5a-reductase deficiency results from reduced conversion of testosterona to the more potent androgen, dihydrotestosterone. Alterations in 5a-reduc1ase type-2 gene are responsible from the syndrome. Four distinct mutations are reported to cause 5ccreductase deficiency in the Turkish population: A M157, G196S, L55Q and A P251 plus frameshift. Genetic diversity of the observed mutations disproves a founder effect for the whole country. A common ancestor may only be responsible for cases that live or migrate from isolated geographic areas in Turkey. The presence of high rate of consanguinity in affected subjects mandates a public education campaign against intrafamily-marriages. With the identification of etiological molecular genetic defects, genetic counselling and prenatal diagnosis should be offered to affected individuals.