Literature DB >> 23131529

Prenatal management of disorders of sex development.

Lyn S Chitty1, Pierre Chatelain, Katja P Wolffenbuttel, Yves Aigrain.   

Abstract

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.
Copyright © 2012 Journal of Pediatric Urology Company. All rights reserved.

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Year:  2012        PMID: 23131529     DOI: 10.1016/j.jpurol.2012.10.012

Source DB:  PubMed          Journal:  J Pediatr Urol        ISSN: 1477-5131            Impact factor:   1.830


  10 in total

1.  Discrepancy in fetal sex assignment between cell free fetal DNA and ultrasound.

Authors:  J I Iruretagoyena; M Grady; D Shah
Journal:  J Perinatol       Date:  2015-03       Impact factor: 2.521

2.  Plea for a standardized imaging approach to disorders of sex development in neonates: consensus proposal from European Society of Paediatric Radiology task force.

Authors:  Fred E Avni; Heloise Lerisson; Maria-Luisa Lobo; Maryse Cartigny; Marcello Napolitano; Hans-J Mentzel; Michael Riccabona; Magdalena Wozniak; Damjana Kljucevsek; Thomas A Augdal; Bruno Constanza; Donald Ibe; Kassa Darge; Samuel Stafrace; Philippe Petit; Lil-Sofie Ording Muller
Journal:  Pediatr Radiol       Date:  2019-05-23

Review 3.  Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA.

Authors:  Lyn S Chitty; Y M Dennis Lo
Journal:  Cold Spring Harb Perspect Med       Date:  2015-07-17       Impact factor: 6.915

Review 4.  Cholesterol Contributes to Male Sex Differentiation Through Its Developmental Role in Androgen Synthesis and Hedgehog Signaling.

Authors:  Anbarasi Kothandapani; Colin R Jefcoate; Joan S Jorgensen
Journal:  Endocrinology       Date:  2021-07-01       Impact factor: 4.736

5.  Prenatal detection and evaluation of differences of sex development: A qualitative interview study of parental perspectives and unmet needs.

Authors:  J Whitehead; Josephine Hirsch; Ilina Rosoklija; Allison Goetsch Weisman; Jeffrey Dungan; Courtney Finlayson; Diane Chen; Emilie K Johnson
Journal:  Prenat Diagn       Date:  2022-06-11       Impact factor: 3.242

6.  EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION.

Authors:  Meghan E Fredette; Katelyn Cusmano; Chanika Phornphutkul; Jennifer Schwab; Anthony Caldamone; Lisa Swartz Topor
Journal:  AACE Clin Case Rep       Date:  2019-08-14

7.  Cell-free fetal DNA: the new tool in fetal medicine.

Authors:  T R Everett; L S Chitty
Journal:  Ultrasound Obstet Gynecol       Date:  2015-05       Impact factor: 7.299

8.  Discordant sex between fetal screening and postnatal phenotype requires evaluation.

Authors:  Heather M Byers; Whitney Neufeld-Kaiser; Edith Y Chang; Karen Tsuchiya; Erin S Oehler; Margaret P Adam
Journal:  J Perinatol       Date:  2018-11-21       Impact factor: 2.521

Review 9.  Novel Epigenetic Biomarkers in Pregnancy-Related Disorders and Cancers.

Authors:  Valentina Karin-Kujundzic; Ida Marija Sola; Nina Predavec; Anamarija Potkonjak; Ema Somen; Pavao Mioc; Alan Serman; Semir Vranic; Ljiljana Serman
Journal:  Cells       Date:  2019-11-18       Impact factor: 6.600

Review 10.  Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.

Authors:  Yolande van Bever; Hennie T Brüggenwirth; Katja P Wolffenbuttel; Arianne B Dessens; Irene A L Groenenberg; Maarten F C M Knapen; Elfride De Baere; Martine Cools; Conny M A van Ravenswaaij-Arts; Birgit Sikkema-Raddatz; Hedi Claahsen-van der Grinten; Marlies Kempers; Tuula Rinne; Remko Hersmus; Leendert Looijenga; Sabine E Hannema
Journal:  J Med Genet       Date:  2020-04-17       Impact factor: 6.318

  10 in total

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