ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2021

ey0018.6-11 | Reviews with Clinical Impact for DSD Care | ESPEYB18

6.11. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: a comprehensive update

MK Herlin , MB Petersen , M Brannstrom

Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. is an excellent and detailed systematic review on all relevant aspects of the MRKH syndrome. This review is also very timely, due to the many recent genetic and therapeutic advancements and the last in-de...

ey0018.6-12 | Reviews with Clinical Impact for DSD Care | ESPEYB18

6.12. 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

TH Johannsen , AM Andersson , SF Ahmed , YB de Rijke , RF Greaves , MF Hartmann , O Hiort , PM Holterhus , NP Krone , A Kulle , ML Ljubicic , G Mastorakos , J McNeilly , AM Pereira , A Saba , SA Wudy , KM Main , A Juul

Eur J Endocrinol. 2020 Jun;182(6):P1–P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH)...