ESPEYB17 6. Differences/Disorders of Sex Development and Transgender Medicine Differences/Disorders of Sex Development: A DSDnet Pape (1 abstracts)
6.3. 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
Johannsen TH , Andersson AM , Ahmed SF , de Rijke YB , Greaves RF , Hartmann MF , Hiort O , Holterhus PM , Krone NP , Kulle A , Ljubicic ML , Mastorakos G , McNeilly J , Pereira AM , Saba A , Wudy SA , Main KM & Juul A
To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdf
Diagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This position statement, formulated by the COST action DSDnet (BM1303) and the Endo-ERN, provides laboratory guidelines for state-of-the art analysis and interpretation of peptide hormones (e.g. FSH, LH, AMH, inhibin B) in DSD. The authors recommend to measure these peptides in plasma and serum by immunoassays; laboratories should use sex- and age-related reference values and participate in external quality circles. Validation is crucial for harmonization and standardization of tests between different laboratories.
This paper is a ‘must read and follow’ for all health care professionals dealing with laboratory workup of DSD patients. It is written in a comprehensive yet easy-to-digest fashion and summarizes the preanalytical, analytical and postanalytical requirements for high quality laboratory testing of peptide hormones recommended for the workup of DSD. A table summarizes the expected peptide hormone values associated with the most often encountered DSD diagnoses, which is very helpful for interpretation of data during the diagnostic process.
It might be of interest to learn that experts participating in the DSDnet recently published two similar position statements, one on steroid hormone analysis in diagnosis and treatment of DSD (1) and the other on diagnostic genetic approach in DSD (2).
References:
1. Steroid Hormone Analysis in Diagnosis and Treatment of DSD: Position Paper of EU COST Action BM 1303 ‘DSDnet’.
2. A Kulle 1, N Krone 2, P M Holterhus 1, G Schuler 3, R F Greaves 4, A Juul 5, Y B de Rijke 6, M F Hartmann 7, A Saba 8, O Hiort 9, S A Wudy 7, EU COST Action. Eur J Endocrinol. 2017 Feb; 176(5): P1–P9. PMID: 28188242, DOI: 10.1530/EJE-16-0953.
3. GENETICS IN ENDOCRINOLOGY: Approaches to Molecular Genetic Diagnosis in the Management of differences/disorders of Sex Development (DSD): Position Paper of EU COST Action BM 1303 ‘DSDnet’
4. L Audi 1, S F Ahmed 2, N Krone 3, M Cools 4, K McElreavey 5, P M Holterhus 6, A Greenfield 7, A Bashamboo 5, O Hiort 8, S A Wudy 9, R McGowan 2 10, The EU COST Action. Eur J Endocrinol. 2018 Oct 1;179(4):R197–R206. PMID: 30299888, DOI: 10.1530/EJE-18-0256.
Volume 17
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more