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OPINION

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

Nature Reviews Endocrinology volume 15, pages 615–622 (2019)Cite this article

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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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Acknowledgements

The authors thank all members and participants of both COST Actions for their continuous support and active input.

Author information

Authors and Affiliations

  1. 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

  2. Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

    Martine Cools

  3. Department of Internal Medicine and Paediatrics, Ghent University, Ghent, Belgium

    Martine Cools

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

    Alexander Springer

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

    Ken McElreavey

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

    Andy Greenfield

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

    Stefan A. Wudy

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

    Alexandra Kulle

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

    S. Faisal Ahmed

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

    Arianne Dessens

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

    Antonio Balsamo

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

    Mohamad Maghnie

  13. Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

    Marco Bonomi & Luca Persani

  14. IRCCS Istituto Auxologico Italiano, Division of Endocrine and Metabolic Diseases, Milan, Italy

    Marco Bonomi & Luca Persani

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

    Mehul Dattani

  16. 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

    Laura Audi

Authors
  1. Olaf Hiort
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  15. Laura Audi
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Consortia

on behalf of COST Actions DSDnet and GnRH Network as well as the European Reference Network for Rare Endocrine Conditions (Endo–ERN)

Contributions

The authors contributed equally to all aspects of the article.

Corresponding author

Correspondence to Olaf Hiort.

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Competing interests

The authors declare no competing interests.

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Peer review information

Nature Reviews Endocrinology thanks C. H. Gravholt and the other, anonymous, reviewers for their contribution to the peer review of this work.

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Related links

CHUV: www.chuv.ch/en/hhn/hhn-home/

COST Action DSDnet: www.dsdnet.eu

DSD-Life: https://www.dsd-life.eu/

DSDnet: www.dsdnet.eu

Endo–ERN: https://endo-ern.eu/

European Commission European Reference Networks: https://ec.europa.eu/health/ern_en

GnRH Network: www.gnrhnetwork.eu

I-CAH Registry: www.i-cah.org

I-DSD Registry: www.i-dsd.org

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Hiort, O., Cools, M., Springer, A. et al. Addressing gaps in care of people with conditions affecting sex development and maturation. Nat Rev Endocrinol 15, 615–622 (2019). https://doi.org/10.1038/s41574-019-0238-y

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