1. 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
- Author
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Johannsen, T.H., Andersson, A.M., Ahmed, S.F., Rijke, Y.B. de, Greaves, R.F., Hartmann, M.F., Hiort, O., Holterhus, P.M., Krone, N.P., Kulle, A., Ljubicic, M.L., Mastorakos, G., McNeilly, J., Pereira, A.M., Saba, A., Wudy, S.A., Main, K.M., Juul, A., Working Group 3 H, Work Package 5 Diag, and Clinical Chemistry
- Subjects
Anti-Mullerian Hormone ,Male ,medicine.medical_specialty ,Peptide Hormones ,Endocrinology, Diabetes and Metabolism ,Disorders of Sex Development ,030209 endocrinology & metabolism ,Context (language use) ,Physical examination ,Peptide hormone ,Bioinformatics ,03 medical and health sciences ,Rare Diseases ,0302 clinical medicine ,Endocrinology ,SDG 3 - Good Health and Well-being ,Tandem Mass Spectrometry ,Internal medicine ,medicine ,Humans ,Endocrine system ,Inhibins ,Cost action ,Immunoassay ,medicine.diagnostic_test ,business.industry ,Network on ,Disease Management ,General Medicine ,Luteinizing Hormone ,Reference Standards ,Europe ,030220 oncology & carcinogenesis ,Practice Guidelines as Topic ,Position paper ,Female ,Follicle Stimulating Hormone ,business ,Chromatography, Liquid ,Hormone - Abstract
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.
- Published
- 2020