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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

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Johannsen, TH, Andersson, AH, Ahmed, SF, de Rijke, Y, Greaves, RF, Hartmann, MF, Hiort, O, Holterhus, P-M, Krone, NP, Kulle, A, Ljubicic, ML, Mastorakos, G, McNeilly, J, Pereira, AM, Saba, A, Wudy, SA, Main, KM & Juul, A 2020, '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' European Journal of Endocrinology, vol. 182, no. 6, pp. P1-P15. https://doi.org/10.1530/EJE-19-0831

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Author

Johannsen, Trine Holm ; Andersson, A H ; Ahmed, S F ; de Rijke, Y ; Greaves, R F ; Hartmann, M F ; Hiort, O ; Holterhus, P-M ; Krone, N P ; Kulle, A ; Ljubicic, Marie Lindhardt ; Mastorakos, G ; McNeilly, J ; Pereira, A M ; Saba, A ; Wudy, S A ; Main, K M ; Juul, Anders. / 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. 2020 ; Vol. 182, No. 6. pp. P1-P15.

Bibtex

@article{bfa942c722a84991b19f699ae9836ce4,
title = "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",
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-M{\"u}llerian 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.",
keywords = "Anti-Mullerian Hormone/blood, Chromatography, Liquid/standards, Disease Management, Disorders of Sex Development/diagnosis, Europe, Female, Follicle Stimulating Hormone/blood, Humans, Immunoassay/standards, Inhibins/blood, Luteinizing Hormone/blood, Male, Peptide Hormones/blood, Practice Guidelines as Topic, Rare Diseases, Reference Standards, Tandem Mass Spectrometry/standards",
author = "Johannsen, {Trine Holm} and Andersson, {A H} and Ahmed, {S F} and {de Rijke}, Y and Greaves, {R F} and Hartmann, {M F} and O Hiort and P-M Holterhus and Krone, {N P} and A Kulle and Ljubicic, {Marie Lindhardt} and G Mastorakos and J McNeilly and Pereira, {A M} and A Saba and Wudy, {S A} and Main, {K M} and Anders Juul",
year = "2020",
month = "6",
doi = "10.1530/EJE-19-0831",
language = "English",
volume = "182",
pages = "P1--P15",
journal = "European Journal of Endocrinology",
issn = "0804-4643",
publisher = "BioScientifica Ltd.",
number = "6",

}

RIS

TY - JOUR

T1 - Peptide Hormone Analysis in Diagnosis and Treatment of Differences of Sex Development

T2 - Joint Position Paper of EU COST Action "DSDnet" and European Reference Network on Rare Endocrine Conditions

AU - Johannsen, Trine Holm

AU - Andersson, A H

AU - Ahmed, S F

AU - de Rijke, Y

AU - Greaves, R F

AU - Hartmann, M F

AU - Hiort, O

AU - Holterhus, P-M

AU - Krone, N P

AU - Kulle, A

AU - Ljubicic, Marie Lindhardt

AU - Mastorakos, G

AU - McNeilly, J

AU - Pereira, A M

AU - Saba, A

AU - Wudy, S A

AU - Main, K M

AU - Juul, Anders

PY - 2020/6

Y1 - 2020/6

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.

KW - Anti-Mullerian Hormone/blood

KW - Chromatography, Liquid/standards

KW - Disease Management

KW - Disorders of Sex Development/diagnosis

KW - Europe

KW - Female

KW - Follicle Stimulating Hormone/blood

KW - Humans

KW - Immunoassay/standards

KW - Inhibins/blood

KW - Luteinizing Hormone/blood

KW - Male

KW - Peptide Hormones/blood

KW - Practice Guidelines as Topic

KW - Rare Diseases

KW - Reference Standards

KW - Tandem Mass Spectrometry/standards

U2 - 10.1530/EJE-19-0831

DO - 10.1530/EJE-19-0831

M3 - Journal article

VL - 182

SP - P1-P15

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

SN - 0804-4643

IS - 6

ER -

ID: 59699090