ISSN 1662-4009 (online)

ey0019.6-2 | Sex Hormone Replacement Therapies in DSD | ESPEYB19

6.2. Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome

MK Auer , W Birnbaum , MF Hartmann , PM Holterhus , A Kulle , A Lux , L Marshall , K Rall , A Richter-Unruh , R Werner , SA Wudy , O Hiort

Endocrine. 2022 Jun;76(3):722-732. PMID: 35258786, doi: 10.1007/s12020-022-03017-8.Brief Summary: In this multicentre, randomized, double-dummy, double-blind crossover trial the authors investigated differences in metabolic parameters between the individuals with complete androgen insensitivity syndrome (CAIS) receiving testosterone versus estradiol replacement therapy. This is the first s...

ey0016.6-1 | DSD New Paradigm | ESPEYB16

6.1. Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial

W Birnbaum , L Marshall , R Werner , A Kulle , PM Holterhus , K Rall , B Kohler , A Richter-Unruh , MF Hartmann , SA Wudy , MK Auer , A Lux , S Kropf , O Hiort

Lancet Diabetes Endocrinol. 2018 Oct;6(10):771–780.doi: 10.1016/S2213-8587(18)30197-9.For the first time a prospective randomized treatment study has been performed for individuals with a DSD. This national multi-center, double-blind, randomized, cross-over trial compared estrogen therapy to androgen replacement in complete androgen insensitivity syndrome ...

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)...

ey0017.6-3 | Differences/Disorders of Sex Development: A DSDnet Pape | ESPEYB17

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

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

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.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...

ey0016.6-2 | New Functions of (Old) Genes | ESPEYB16

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

NC Hornig , P Rodens , H Dorr , NC Hubner , AE Kulle , HU Schweikert , M Welzel , S Bens , O Hiort , R Werner , S Gonzalves , AK Eckstein , M Cools , A Verrijn-Stuart , HG Stunnenberg , R Siebert , O Ammerpohl , PM Holterhus

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4617–4627.doi: 10.1210/jc.2018-00052. PMID: 30124873This study shows for the first time that epigenetic changes in the androgen receptor gene (AR) proximal promoter region may underlie a clinical phenotype of Androgen Insensitivity Syndrome (AIS) in individuals in whom no DNA sequence mutation in AR or ...