@article{3078259,
    title = "Peptide hormone analysis in diagnosis and treatment of differences of sex development: Joint position paper of EU cost action 'SDnet' and european reference network on rare endocrine conditions",
    author = "Johannsen, T.H. and Andersson, A.-M. and Ahmed, S.F. and De Rijke, Y.B. and Greaves, R.F. and Hartmann, M.F. and Hiort, O. and Holterhus, P.-M. and Krone, N.P. and Kulle, A. and Ljubicic, M.L. and Mastorakos, G. and McNeilly, J. and Pereira, A.M. and Saba, A. and Wudy, S.A. and Main, K.M. and Juul, A. and Working Group 3 'Harmonisation of Laboratory Assessment' of the European Cooperation in Science and Technology (COST) Action BM1303 'DSDnet' and Work Package 5 'Diagnostics and Laboratory Analysis' of the European Reference Network on Rare Endocrine Conditions",
    journal = "European Journal of Endocrinology",
    year = "2020",
    volume = "182",
    number = "6",
    publisher = "BioScientifica Ltd",
    issn = "0804-4643, 1479-683X",
    doi = "10.1530/EJE-19-0831",
    keywords = "androgen;  follitropin;  inhibin B;  luteinizing hormone;  luteinizing hormone receptor;  Muellerian inhibiting factor;  peptide hormone;  inhibin;  peptide hormone, 45,X/46,XY mosaicism;  androgen insensitivity syndrome;  androgen synthesis;  Article;  clinical examination;  disorder of sex development;  genetic analysis;  hormone determination;  human;  hypogonadotropic hypogonadism;  immunoassay;  Klinefelter syndrome;  laboratory test;  Leydig cell hypoplasia;  liquid chromatography-mass spectrometry;  priority journal;  quality control;  reference value;  sex diagnosis;  steroid 21 monooxygenase deficiency;  Turner syndrome;  XX gonadal dysgenesis;  blood;  disease management;  disorder of sex development;  Europe;  female;  liquid chromatography;  male;  practice guideline;  rare disease;  standard;  tandem mass spectrometry, Anti-Mullerian Hormone;  Chromatography, Liquid;  Disease Management;  Disorders of Sex Development;  Europe;  Female;  Follicle Stimulating Hormone;  Humans;  Immunoassay;  Inhibins;  Luteinizing Hormone;  Male;  Peptide Hormones;  Practice Guidelines as Topic;  Rare Diseases;  Reference Standards;  Tandem Mass Spectrometry",
    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 analys is 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. © 2020 European Society of Endocrinology Printed in Great Britain."
}