TY - JOUR

T1 - Peptide hormone analysis in diagnosis and treatment of differences of sex development

T2 - Joint position paper of EU cost action 'SDnet' and european reference network on rare endocrine conditions

AU - Johannsen, T. H.

AU - Andersson, A. M.

AU - Ahmed, S. F.

AU - De Rijke, Y. B.

AU - Greaves, R. F.

AU - Hartmann, M. F.

AU - Hiort, O.

AU - Holterhus, P. M.

AU - Krone, N. P.

AU - Kulle, A.

AU - Ljubicic, M. L.

AU - Mastorakos, G.

AU - McNeilly, J.

AU - Pereira, A. M.

AU - Saba, A.

AU - Wudy, S. A.

AU - Main, K. M.

AU - Juul, A.

AU - 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 Condi

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

U2 - 10.1530/EJE-19-0831

DO - 10.1530/EJE-19-0831

M3 - Journal article

C2 - 32268295

AN - SCOPUS:85084271646

VL - 182

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

SN - 0804-4643

IS - 6

ER -