Modifier Genes in 21-hydroxylase Deficiency - GSD 5607. Modifier Genes in 21-hydroxylase Deficiency - GSD 5607

CAH is a genetic steroidogenesis disorder. The most common form, 21OHD, leads to cortisol deficiency and, in turn, an excess of androgen, a hormone that promotes the development and maintenance of male sex characteristics. As a result of this androgen excess, prepubescent males and newborn, prepubescent, and grown females exhibit mature masculine characteristics. The symptoms and severity of 21OHD vary among individuals with the disease and in adults versus children. The reasons for these differences are not yet known. Current therapy for 21OHD consists of administration of glucocorticoids to replace cortisol and suppress excessive pituitary function. With more information about what genes or factors contribute to the severity of 21OHD, researchers may be able to better treat children and adults with the disease. This study will examine participants' DNA to determine what other genes may affect the severity of 21OHD and may make the disease milder in adults... (for more see dbGaP study page.)

CAH即先天性肾上腺皮质增生症（Congenital Adrenal Hyperplasia）是一种遗传性类固醇生成障碍。其最常见亚型为21OHD，即21-羟化酶缺乏症（21-Hydroxylase Deficiency），该病症会导致皮质醇（cortisol）缺乏，进而引发雄激素（androgen）过量——雄激素是一类促进男性性特征发育与维持的激素。受雄激素过量影响，青春期前男性，以及新生儿、青春期前女性与成年女性均会表现出成熟的男性化特征。21OHD的症状表现与严重程度存在个体差异，且成人与患儿的临床特征也有所不同，目前此类差异的成因尚未明确。当前针对21OHD的治疗方案为给予糖皮质激素（glucocorticoids）以替代皮质醇，并抑制过度活跃的垂体功能。若能明确更多与21OHD严重程度相关的基因或调控因子，研究人员或可优化该疾病在儿童与成人患者中的治疗方案。本研究将对参与者的DNA进行检测分析，以明确其他可影响21OHD严重程度、或可缓解成人患者病情的基因……（更多详情请参见dbGaP（基因型与表型数据库，Database of Genotypes and Phenotypes）研究页面）