Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions

in European Journal of Endocrinology
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  • 1 Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  • 2 International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  • 3 Developmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK
  • 4 Department of Clinical Chemistry, Erasmus MC, University Medical Center, Rotterdam, Netherlands
  • 5 Victorian Clinical Genetics Services, Murdoch Children’s Research Institute
  • 6 School of Health and Biomedical Sciences, RMIT University, Melbourne, Victoria, Australia
  • 7 Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
  • 8 Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig-University, Giessen, Germany
  • 9 Division of Pediatric Endocrinology and Diabetology, Department of Paediatrics and Adolescent Medicine, University of Luebeck, Luebeck, Germany
  • 10 Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University, Kiel, Germany
  • 11 Academic Unit of Child Health, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK
  • 12 Unit of Endocrinology, Diabetes Mellitus and Metabolism, Aretaieon Hospital, Faculty of Medicine, National and Kapodistrian University of Athens, Athens, Greece
  • 13 Department of Biochemistry, Queen Elizabeth University Hospital, Glasgow, UK
  • 14 Department of Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands
  • 15 Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy

Correspondence should be addressed to T H Johannsen; Email: trine.holm.johannsen@regionh.dk
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Differences of Sex Development (DSD) comprise a variety of congenital conditions characterized by atypical chromosomal, gonadal, or anatomical sex. Diagnosis and monitoring of treatment of patients suspected of DSD conditions include clinical examination, measurement of peptide and steroid hormones, and genetic analysis. This position paper on peptide hormone analyses in the diagnosis and control of patients with DSD was jointly prepared by specialists in the field of DSD and/or peptide hormone analysis from the European Cooperation in Science and Technology (COST) Action DSDnet (BM1303) and the European Reference Network on rare Endocrine Conditions (Endo-ERN). The goal of this position paper on peptide hormone analysis was to establish laboratory guidelines that may contribute to improve optimal diagnosis and treatment control of DSD. The essential peptide hormones used in the management of patients with DSD conditions are follicle-stimulating hormone, luteinising hormone, anti-Müllerian hormone, and Inhibin B. In this context, the following position statements have been proposed: serum and plasma are the preferred matrices; the peptide hormones can all be measured by immunoassay, while use of LC-MS/MS technology has yet to be implemented in a diagnostic setting; sex- and age-related reference values are mandatory in the evaluation of these hormones; and except for Inhibin B, external quality assurance programs are widely available.

Supplementary Materials

    • Supplementary Table 1. Reported analytical platforms for luteinizing hormone (LH, n=29), follicle-stimulating hormone (FSH, n=29), anti-Müllerian hormone (AMH, n=26) and inhibin B (n=14) within the theme Sex Development & Maturation of the European Reference Network on Rare Endocrine Conditions (Endo-ERN). The replies are from a questionnaire survey among Reference Centers within Endo-ERN. The respondents are listed.

 

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