Grinspon Romina P, Rey Rodolfo A
Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425EFD, Buenos, Aires, Argentina.
Birth Defects Res C Embryo Today. 2014 Dec;102(4):359-73. doi: 10.1002/bdrc.21086. Epub 2014 Dec 3.
The birth of a baby with malformations of the genitalia urges medical action. Even in cases where the condition is not life-threatening, the identification of the external genitalia as male or female is emotionally essential for the family, and genital malformations represent one of the most stressful situations around a newborn. The female or male configuration of the genitalia normally evolves during fetal life according to the genetic, gonadal, and hormonal sex. Disorders of sex development occur when male hormone (androgens and anti-Müllerian hormone) secretion or action is insufficient in the 46,XY fetus or when there is an androgen excess in the 46,XX fetus. However, sex hormone defects during fetal development cannot explain all congenital malformations of the reproductive tract. This review is focused on those congenital conditions in which gonadal function and sex hormone target organ sensitivity are normal and, therefore, not responsible for the genital malformation. Furthermore, because the reproductive and urinary systems share many common pathways in embryo-fetal development, conditions associating urogenital malformations are discussed.
出生时患有生殖器畸形的婴儿促使采取医疗行动。即使在病情不危及生命的情况下，确定外生殖器的性别对家庭来说在情感上至关重要，而生殖器畸形是新生儿周围最具压力的情况之一。生殖器的女性或男性形态通常在胎儿期根据遗传、性腺和激素性别发育。当46,XY胎儿中雄激素（雄激素和抗苗勒管激素）分泌或作用不足，或46,XX胎儿中雄激素过量时，就会发生性发育障碍。然而，胎儿发育期间的性激素缺陷并不能解释所有先天性生殖道畸形。本综述聚焦于那些性腺功能和性激素靶器官敏感性正常、因此与生殖器畸形无关的先天性疾病。此外，由于生殖系统和泌尿系统在胚胎-胎儿发育过程中有许多共同途径，因此也讨论了伴有泌尿生殖系统畸形的情况。
