Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.
J Pediatr Urol. 2012 Dec;8(6):576-84. doi: 10.1016/j.jpurol.2012.10.012. Epub 2012 Nov 4.
Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues. In this brief review, we present an overview of the prenatal presentation and management of DSD, including the sonographic appearance of normal genitalia and methods of determining genetic sex, the prenatal management of pregnancies with the unexpected finding of genital ambiguity on prenatal ultrasound and a review of the prenatal management of pregnancies at high risk of DSD. As this is a rapidly developing field, management options will change over time, making the involvement of clinical geneticists, paediatric endocrinologists and urologists, as well as fetal medicine specialists, essential in the care of these complex pregnancies. The reader should also bear in mind that local social, ethical and legal aspects may also influence management.
性发育障碍(DSD)很少在产前出现,但由于其非常复杂,管理应由高度专业化的医疗团队进行,以考虑诊断、治疗和伦理问题的各个方面。在这篇简要综述中,我们介绍了 DSD 的产前表现和管理,包括正常生殖器的超声表现和确定遗传性别方法、产前超声发现生殖器模糊的妊娠的管理,以及高危 DSD 妊娠的产前管理。由于这是一个快速发展的领域,管理选择会随着时间的推移而改变,因此临床遗传学家、儿科内分泌学家和泌尿科医生以及胎儿医学专家的参与对于这些复杂妊娠的护理至关重要。读者还应注意,当地的社会、伦理和法律方面也可能影响管理。