Literature DB >> 25247663

International networks for supporting research and clinical care in the field of disorders of sex development.

S F Ahmed1, J Bryce, O Hiort.   

Abstract

Differences or disorders of sex development (DSD) are a wide range of relatively rare conditions with diverse pathophysiology that most often present in the newborn or the adolescent. Given their rarity and the need for input from a range of clinical disciplines, the management of the child with a complex form of DSD may be quite complicated, and the situation is worsened by a lack of evidence for many diagnostic and interventional procedures that are undertaken. It is, therefore, not surprising that there will be variation in the management as well as the outcome of patients with this group of conditions. By working as a network of clinical and research centres it is possible that these variations can themselves be better managed and studied. Over the last decade there has been a major shift in the field of rare diseases towards greater collaboration in clinical as well as research activity, and this chapter will summarise these developments.
© 2014 S. Karger AG, Basel.

Entities:  

Mesh:

Year:  2014        PMID: 25247663     DOI: 10.1159/000363676

Source DB:  PubMed          Journal:  Endocr Dev        ISSN: 1421-7082


  7 in total

Review 1.  Towards improved genetic diagnosis of human differences of sex development.

Authors:  Emmanuèle C Délot; Eric Vilain
Journal:  Nat Rev Genet       Date:  2021-06-03       Impact factor: 53.242

Review 2.  Monogenic Disorders of Adrenal Steroidogenesis.

Authors:  Elizabeth S Baranowski; Wiebke Arlt; Jan Idkowiak
Journal:  Horm Res Paediatr       Date:  2018-06-06       Impact factor: 2.852

Review 3.  Management of disorders of sex development.

Authors:  Olaf Hiort; Wiebke Birnbaum; Louise Marshall; Lutz Wünsch; Ralf Werner; Tatjana Schröder; Ulla Döhnert; Paul-Martin Holterhus
Journal:  Nat Rev Endocrinol       Date:  2014-07-15       Impact factor: 43.330

4.  Current models of care for disorders of sex development - results from an International survey of specialist centres.

Authors:  Andreas Kyriakou; Arianne Dessens; Jillian Bryce; Violeta Iotova; Anders Juul; Maciej Krawczynski; Agneta Nordenskjöld; Marta Rozas; Caroline Sanders; Olaf Hiort; S Faisal Ahmed
Journal:  Orphanet J Rare Dis       Date:  2016-11-21       Impact factor: 4.123

5.  An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development.

Authors:  M Kourime; J Bryce; J Jiang; R Nixon; M Rodie; S F Ahmed
Journal:  Orphanet J Rare Dis       Date:  2017-03-20       Impact factor: 4.123

Review 6.  The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development.

Authors:  Salma Rashid Ali; Angela Lucas-Herald; Jillian Bryce; Syed Faisal Ahmed
Journal:  Int J Mol Sci       Date:  2019-09-07       Impact factor: 5.923

Review 7.  Caring for individuals with a difference of sex development (DSD): a Consensus Statement.

Authors:  Martine Cools; Anna Nordenström; Ralitsa Robeva; Joanne Hall; Puck Westerveld; Christa Flück; Birgit Köhler; Marta Berra; Alexander Springer; Katinka Schweizer; Vickie Pasterski
Journal:  Nat Rev Endocrinol       Date:  2018-07       Impact factor: 43.330

  7 in total

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