ANDROGEN METABOLISM IN CHILDHOOD--SUPPLEMENT

描述 这项补助金的总体目的是比较 21-羟化酶缺乏症的生化、临床和基因型特征 （21-OHD）的先天性肾上腺皮质增生症（CAD）患者， 克罗地亚、波斯尼亚和黑塞哥维那以及斯洛文尼亚文化， 美方4个一般关注领域是：（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）父母诊断技术。 外国PI Miroslav Dumic博士获得了Fogarty Grant（FIC 0295 F189）建立产前诊断和治疗方案， 克罗地亚因21-OHD导致CAH。目前的赠款将继续和扩大 这些研究。 已建立的数据库将用于确定具体的 突变，最终成年身高分析，激素水平分析， 女性生殖器男性化评分，并比较突变频率 纽约人口。性别角色，行为和身份将在 使用广泛的问卷调查，在XX例因21-OHD而患有CAD的成人中进行了详细研究 翻译成克罗地亚语。最后，有21-OHD风险的家庭将 进行产前诊断和治疗。

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.