The general aim of this grant is to compare the differences in biochemical, clinical and genotypic features of 21-hydroxylase deficiency (21-OHD) in patients with congenital adrenal hyperplasia (CAD) of Croatian, Bosnian and Herzegovinian, and Slovenian cultures to patients in the US. The 4 general areas of interest are (1) establishment of a 21-OHD database, (2) analyze mutation frequency, (3) behavioral aspects of hyperandrogenism, and (4) parental diagnostic techniques. The foreign PI, Dr. Miroslav Dumic was awarded a Fogarty Grant (FIC 0295F189) to establish a program for prenatal diagnosis and treatment of CAH due to 21-OHD in Croatia. The current grant will continue and amplify these studies. A data base that has been established will be used to identify specific mutations, analysis of final adult height, analysis of hormone levels, score of genital virilization in females, and compare mutation frequency to NY population. Gender roles, behavior, and identity will be analyzed in detail in XX adults with CAD due to 21-OHD using extensive questionnaires translated into Croatian. Finally, families at risk for 21-OHD will undergo prenatal diagnosis and treatment.
| Dumic, Miroslav; Ille, Jasenka; Zunec, Renata et al. (2004) Nonclassic 21-hydroxylase deficiency in Croatia. J Pediatr Endocrinol Metab 17:157-64 |
| Nimkarn, S; Cerame, B I; Wei, J Q et al. (1999) Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations. J Clin Endocrinol Metab 84:378-81 |
