Literature DB >> 28545654

Genetic approach to ambiguous genitalia and disorders of sex development: What clinicians need to know.

Svetlana A Yatsenko1, Selma Feldman Witchel2.   

Abstract

Genetic tools such as microarray and next-generation sequencing have initiated a new era for the diagnosis and management of patients with disorders of sex development (DSDs). These tools supplement the traditional approach to the evaluation and care of infants, children, and adolescents with DSDs. These tests can detect genetic variations known to be associated with DSDs, discover novel genetic variants, and elucidate novel mechanisms of gene regulation. Herein, we discuss these tests and their role in the management of patients with DSDs.
Copyright © 2017. Published by Elsevier Inc.

Entities:  

Keywords:  Ambiguous genitalia; Disorder of sex development; Genetic testing SRY

Mesh：

Year:  2017        PMID： 28545654     DOI： 10.1053/j.semperi.2017.03.016

Source DB:  PubMed          Journal:  Semin Perinatol        ISSN： 0146-0005            Impact factor:   3.300


  6 in total

Review 1.  Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia.

Authors:  Justin A Indyk
Journal:  Transl Pediatr       Date:  2017-10

2.  Controversies surrounding female athletes with differences in sexual development.

Authors:  Ahmed Khattab; Ian Marshall; Sally Radovick
Journal:  J Clin Invest       Date:  2020-06-01       Impact factor: 14.808

Review 3.  Disorders of sex development.

Authors:  Selma Feldman Witchel
Journal:  Best Pract Res Clin Obstet Gynaecol       Date:  2017-11-22       Impact factor: 5.237

4.  Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study.

Authors:  Sara Benchikh; Amale Bousfiha; Lunda Razoki; Jamila Aboulfaraj; Latifa Zarouf; Chadli Elbakay; Lala Laila Rifai; Adil El Hamouchi; Sanaa Nassereddine
Journal:  Biomed Res Int       Date:  2021-05-05       Impact factor: 3.411

5.  The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene.

Authors:  Gianna Carvalheira; Andrea M Malinverni; Mariana Moysés-Oliveira; Renata Ueta; Leonardo Cardili; Patrícia Monteagudo; Andreia L G Mathez; Ieda T Verreschi; Miguel A Maluf; Márcia E F Shida; Mila T C Leite; Diego Mazzotti; Maria Isabel Melaragno; Magnus R Dias-da-Silva
Journal:  J Endocr Soc       Date:  2019-08-28

Review 6.  GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

Authors:  L Audi; S F Ahmed; N Krone; M Cools; K McElreavey; P M Holterhus; A Greenfield; A Bashamboo; O Hiort; S A Wudy; R McGowan
Journal:  Eur J Endocrinol       Date:  2018-10-01       Impact factor: 6.664
  6 in total

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