Prenatal management of disorders of Sex development

被引：30

作者：

Chitty, Lyn S. ^{[1
,2
]}

Chatelain, Pierre ^{[3
]}

Wolffenbuttel, Katja P. ^{[4
]}

Aigrain, Yves ^{[5
]}

机构：

[1] UCL Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, England

[2] Univ Coll London Hosp NHS Fdn Trust, Fetal Med Unit, London, England

[3] Univ Lyon 1, Hop Mere Enfant Lyon, Serv Endocinol & Diabet Infantiles, Lyon, France

[4] Erasmus MC Sophia Childrens Hosp, Dept Pediat Urol, NL-3000 CB Rotterdam, Netherlands

[5] Univ Paris 05, Hop Necker Enfants Malades, APHP Paris, F-75015 Paris, France

来源：

JOURNAL OF PEDIATRIC UROLOGY | 2012年 / 8卷 / 06期

基金：

美国国家卫生研究院;

关键词：

Prenatal diagnosis; Fetal ultrasound; Prenatal management; Disorders of sex development; Ambiguous genitalia; Congenital adrenal hyperplasia; CONGENITAL ADRENAL-HYPERPLASIA; FREE FETAL DNA; MATERNAL PLASMA; DIAGNOSIS; THERAPY; GENDER; RISK;

D O I：

10.1016/j.jpurol.2012.10.012

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. (C) 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

引用

页码：576 / 584

页数：9

共 44 条

[41] Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
Tsui, Nancy B. Y.
Kadir, Rezan A.
Chan, K. C. Allen
Chi, Claudia
Mellars, Gillian
Tuddenham, Edward G.
Leung, Tak Y.
Lau, Tze K.
Chiu, Rossa W. K.
Lo, Y. M. Dennis
[J]. BLOOD, 2011, 117 (13) : 3684 - 3691
[42] Sonographic measurement of corpus spongiosum in male fetuses
Vuillard, Edith
Chitrit, Yvon
Dreux, Sophie
ElGhoneimi, Alaa
Oury, Jean-Francois
Muller, Francoise
[J]. PRENATAL DIAGNOSIS, 2011, 31 (12) : 1160 - 1163
[43] Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
White, PC
Speiser, PW
[J]. ENDOCRINE REVIEWS, 2000, 21 (03) : 245 - 291
[44] Accuracy of fetal gender determination in the first trimester using three-dimensional ultrasound
Youssef, A.
Arcangeli, T.
Radico, D.
Contro, E.
Guasina, F.
Bellussi, F.
Maroni, E.
Morselli-Labate, A. M.
Farina, A.
Pilu, G.
Pelusi, G.
Ghi, T.
[J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2011, 37 (05) : 557 - 561

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