Addressing gaps in care of people with conditions affecting sex development and maturation.


Journal

Nature reviews. Endocrinology
ISSN: 1759-5037
Titre abrégé: Nat Rev Endocrinol
Pays: England
ID NLM: 101500078

Informations de publication

Date de publication:
10 2019
Historique:
accepted: 04 07 2019
pubmed: 14 8 2019
medline: 27 2 2020
entrez: 14 8 2019
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 31406344
doi: 10.1038/s41574-019-0238-y
pii: 10.1038/s41574-019-0238-y
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

615-622

Subventions

Organisme : Medical Research Council
ID : MC_U142684167
Pays : United Kingdom

Auteurs

Olaf Hiort (O)

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck and University Hospital of Schleswig-Holstein, Campus Lübeck, Lübeck, Germany. olaf.hiort@uksh.de.

Martine Cools (M)

Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.
Department of Internal Medicine and Paediatrics, Ghent University, Ghent, Belgium.

Alexander Springer (A)

Department of Paediatric Surgery, Interdisciplinary Centre for Paediatric Urology, Medical University of Vienna, Vienna, Austria.

Ken McElreavey (K)

Human Developmental Genetics, Department of Developmental and Stem Cell Biology, Institut Pasteur, Paris, France.

Andy Greenfield (A)

Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, UK.

Stefan A Wudy (SA)

Centre for Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.

Alexandra Kulle (A)

Division of Paediatric Endocrinology and Diabetes, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

S Faisal Ahmed (SF)

Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK.

Arianne Dessens (A)

Department of Child and Adolescent Psychiatry and Psychology, Erasmus Medical Centre - Sophia, Rotterdam, The Netherlands.

Antonio Balsamo (A)

Paediatric Endocrinology Unit, External Consultant of the Reference Centre for Rare Endocrine Conditions, S. Orsola-Malpighi University Hospital, Bologna, Italy.

Mohamad Maghnie (M)

Department of Paediatrics, IRCCS, Istituto Giannina Gaslini, University of Genova, Genova, Italy.

Marco Bonomi (M)

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
IRCCS Istituto Auxologico Italiano, Division of Endocrine and Metabolic Diseases, Milan, Italy.

Mehul Dattani (M)

Molecular Basis of Rare Disease Section, Genetics and Genomic Medicine Programme, University College London, Great Ormond Street Institute of Child Health, London, UK.

Luca Persani (L)

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
IRCCS Istituto Auxologico Italiano, Division of Endocrine and Metabolic Diseases, Milan, Italy.

Laura Audi (L)

Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

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Classifications MeSH