View source for 17-beta-hydroxysteroid dehydrogenase 3 deficiency overview

'''17-beta-hydroxysteroid dehydrogenase deficiency''' is a rare [[autososmal]] [[recessive]] [[developmental]] [[disorder]] that affects male [[sexual]] [[development]]. The synthesis of [[testestrone]] is impaired and the levels in the serum is low which disrupts the formation of [[external]] [[male]] [[genitalia]] before [[birth]]. The affected individual is [[genetically]] male with [[XY]] [[chromosomes]] with [[phenotype]] [[female]] or [[ambigiounal]] [[external]] [[genitalia]], characterized by [[clitoromegaly]], [[posterior]] [[labioscrotal]] fusion and [[perineal]] [[blind]] [[vaginal]] [[pouch]]. [[Testes]] are located in [[inguinal]] or in the [[labioscrotal folds]]. The [[internal]] [[urogenital]] [[tract]] ([[epididymides]], [[vasa deferentia]], [[seminal vesicles]], [[ejaculatory ducts]]) is well developed; [[prostate]] and [[Müllerian structures]] are absent. Although some patients with less severe defects are brought up as males, affected males are usually raised as girls. During puberty, most of the affected individuals develop male [[secondary sex characteristics]], such as increased [[muscle mass]], [[deepening]] of the [[voice]], and development of [[male]] [[pattern]] body [[hair]]. All affected people with the disease are [[infertile]].