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)

1 Department of Pediatrics
2 Ghent University Hospital
3 Medizinische Universität Wien = Medical University of Vienna
4 Génétique du Développement humain - Human developmental genetics
5 MRC Harwell - Medical Research Coucil Harwell [Oxford, UK]
6 JLU - Justus-Liebig-Universität Gießen = Justus Liebig University
7 CAU - Christian-Albrechts-Universität zu Kiel = Christian-Albrechts University of Kiel = Université Christian-Albrechts de Kiel
8 University of Glasgow
9 Erasmus Medical Centre [Rotterdam, The Netherlands]
10 Policlinico S. Orsola-malpighi
11 UniGe - Università degli studi di Genova = University of Genoa
12 Dipartimento di Scienze Cliniche e di Comunita
13 GOSH - Great Ormond Street Hospital for Children [London]
14 IRCCS Istituto Nazionale dei Tumori [Milano]
15 VHIR - Vall d’Hebron Research Institute

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.

Domaines: Biologie de la reproduction

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, 2019, 15 (10), pp.615-622. ⟨10.1038/s41574-019-0238-y⟩. ⟨pasteur-03521895⟩