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Journal articles
Addressing gaps in care of people with conditions affecting sex development and maturation
Olaf Hiort
1
Martine Cools
2
Alexander Springer
3
Ken Mcelreavey
4
Andy Greenfield
5
Stefan Wudy
6
Alexandra Kulle
7
S. Faisal Ahmed
8
Arianne Dessens
9
Antonio Balsamo
10
Mohamad Maghnie
11
Marco Bonomi
12
Mehul Dattani
13
Luca Persani
12, 14
Laura Audi
15
Olaf Hiort 1
Author ORCID : https://orcid.org/0000-0001-7490-4983
Martine Cools 2
Author
Alexander Springer 3
Author ORCID : https://orcid.org/0000-0003-0300-6021
Ken Mcelreavey 4
Author IdHAL : ken-mcelreavey ORCID : https://orcid.org/0000-0001-6582-1801
Andy Greenfield 5
Author ORCID : https://orcid.org/0000-0002-1477-1776
Stefan Wudy 6
Author
Alexandra Kulle 7
Author
S. Faisal Ahmed 8
Author ORCID : https://orcid.org/0000-0003-0689-5549
Mehul Dattani 13
Author ORCID : https://orcid.org/0000-0002-0365-5809
Luca Persani 12, 14
Author ORCID : https://orcid.org/0000-0003-2068-9581
Laura Audi 15
Author
1
Department of Pediatrics (Lubeck - Germany)
- Universität zu Lübeck [Lübeck] (Ratzeburger Allee 160 23562 Lübeck - Germany)
2
Ghent University Hospital (De Pintelaan 185, 9000 Gent, Belgium - Belgium)
3
Medizinische Universität Wien = Medical University of Vienna (Spitalgasse 23, A-1090 Vienna - Austria)
4
Génétique du Développement humain - Human developmental genetics (28, rue du Docteur Roux 75724 Paris Cedex 15 - France)
- Institut Pasteur [Paris] (25-28, rue du docteur Roux, 75724 Paris cedex 15 - France)
5
MRC Harwell - Medical Research Coucil Harwell [Oxford, UK] (Harwell Science and Innovation Campus Oxfordshire OX11 0RD UK - United Kingdom)
- MRC Harwell (United Kingdom)
6
JLU - Justus-Liebig-Universität Gießen (Ludwigstraße 23, 35390 Gießen - Germany)
7
Christian-Albrechts University of Kiel (Germany)
8
University of Glasgow (Glasgow G12 8QQ Scotland - United Kingdom)
9
Erasmus Medical Centre [Rotterdam, The Netherlands] (Netherlands)
10
Policlinico S. Orsola-malpighi (Via Albertoni, 1540138 Bologna - Italy)
- UNIBO - Alma Mater Studiorum Università di Bologna [Bologna] (Via Zamboni, 33 - 40126 Bologna - Italy)
- Servizio sanitario regionale Emilia-Romagna (Italy)
11
Universita degli studi di Genova (Via Balbi, 5 - 16126 Genova - Italy)
12
Dipartimento di Scienze Cliniche e di Comunita (Italy)
- UNIMI - Università degli Studi di Milano [Milano] (Via Festa del Perdono 7 - 20122 Milano - Italy)
13
GOSH - Great Ormond Street Hospital for Children [London] (Great Ormond Street Hospital for Children NHS Trust Great Ormond Street London WC1N 3JH - United Kingdom)
14
IRCCS Istituto Nazionale dei Tumori [Milano] ( Via Giacomo Venezian, 1, 20133 Milano - Italy)
15
VHIR - Vall d’Hebron Research Institute (Spain)
Abstract : Differences of sex development are conditions with discrepancies between chromosomal, gonadal and phenotypic sex. In congenital hypogonadotropic hypogonadism, a lack of gonadotropin activity results primarily in the absence of pubertal development with prenatal sex development being (almost) unaffected in most patients. To expedite progress in the care of people affected by differences of sex development and congenital hypogonadotropic hypogonadism, the European Union has funded a number of scientific networks. Two Actions of the Cooperation of Science and Technology (COST) programmes - DSDnet (BM1303) and GnRH Network (BM1105) - provided the framework for ground-breaking research and allowed the development of position papers on diagnostic procedures and special laboratory analyses as well as clinical management. Both Actions developed educational programmes to increase expertise and promote interest in this area of science and medicine. In this Perspective article, we discuss the success of the COST Actions DSDnet and GnRH Network and the European Reference Network for Rare Endocrine Conditions (Endo-ERN), and provide recommendations for future research.
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Journal articles
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https://hal-pasteur.archives-ouvertes.fr/pasteur-03521895
Contributor : Ken Mcelreavey Connect in order to contact the contributor
Submitted on : Tuesday, January 11, 2022 - 7:12:51 PM
Last modification on : Wednesday, January 12, 2022 - 6:04:06 PM
Contributor : Ken Mcelreavey Connect in order to contact the contributor
Submitted on : Tuesday, January 11, 2022 - 7:12:51 PM
Last modification on : Wednesday, January 12, 2022 - 6:04:06 PM
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- HAL Id : pasteur-03521895, version 1
- DOI : 10.1038/s41574-019-0238-y
- PUBMED : 31406344
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Citation
Olaf Hiort, Martine Cools, Alexander Springer, Ken Mcelreavey, Andy Greenfield, et al.. Addressing gaps in care of people with conditions affecting sex development and maturation. Nature Reviews Endocrinology, Nature Publishing Group, 2019, 15 (10), pp.615-622. ⟨10.1038/s41574-019-0238-y⟩. ⟨pasteur-03521895⟩
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