ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 7 results

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...
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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 ...
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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)...
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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...
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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 ...
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ey0017.6-10 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.10. The external genitalia score (EGS): A European multicenter validation study

S Van der Straaten , A Springer , A Zecic , D Hebenstreit , U Tonnhofer , A Gawlik , M Baumert , K Szeliga , S Debulpaep , A Desloovere , L Tack , K Smets , M Wasniewska , D Corica , M Calafiore , ML Ljubicic , AS Busch , A Juul , A Nordenstrom , J Sigurdsson , CE Fluck , T Haamberg , S Graf , SE Hannema , KP Wolffenbuttel , O Hiort , SF Ahmed , M Cools

To read the full abstract: J Clin Endocrinol Metab. 2020, Mar 1; 105. doi: https://academic.oup.com/jcem/article-abstract/105/3/e222/5609091?redirectedFrom=fulltextThis cross-sectional study collected measures of genital development from 181 premature neonates, 378 term neonates, 308 babies up to 24 months, and in 111 babies with atypical geni...
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ey0017.6-12 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.12. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

ML Ljubicic , A Jorgensen , C Acerini , J Andrade , A Balsamo , S Bertelloni , M Cools , RT Cuccaro , F Darendeliler , CE Fluck , RP Grinspon , A Maciel-Guerra , T Guran , SE Hannema , AK Lucas-Herald , O Hiort , PM Holterhus , C Lichiardopol , LHJ Looijenga , R Ortolano , S Riedl , SF Ahmed , A Juul

To read the full abstract: J Clin Endocrinol Metab. 2019, Oct 1; 104: 4366–81. doi: https://www.ncbi.nlm.nih.gov/pubmed/31127831This retrospective observational study compared long-term health outcomes between 46,X/46,XY individuals diagnosed early in life due to genital anomalies (n =35) and those diagnosed later due other reasons (n =28). Data came from 16 clinic...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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