ANDROGEN METABOLISM IN CHILDHOOD--SUPPLEMENT

描述 这项资助的总体目标是比较 21-羟基酶缺乏症的生化、临床和基因分型特征 (21-OHD)先天性肾上腺皮质增生症 克罗地亚人、波斯尼亚人、赫泽戈维尼亚人和斯洛文尼亚人的文化 美国。主要关注的4个领域是：(1)建立21-OHD 数据库，(2)分析突变频率，(3)行为方面 高雄激素血症；(4)亲子诊断技术。 外国少年派米罗斯拉夫·杜米奇博士被授予Fogarty Grant(FIC 0295F189)建立产前诊断和治疗计划 由于克罗地亚的21-OHD，CAH。目前的赠款将继续并扩大 这些研究。 已建立的数据库将用于识别特定的 突变，成人最终身高分析，激素水平分析， 女性生殖器男性化评分，并比较突变频率 向纽约人口致敬。中将分析性别角色、行为和身份 XX例成人21-OHD患者的详细资料 翻译成克罗地亚语。最后，有21-OHD风险的家庭将 接受产前诊断和治疗。

DESCRIPTION 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.