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To read the full abstract: Hum Reprod. 2018 Nov 1;33(11):21222130This longitudinal study of 31 patients (14 males) with Silver-Russell syndrome (SRS) and 123 non-SRS small-for-gestational-age (SGA) patients (65 males) shows that Sertoli cell dysfunction is more common in SRS males, with 11p15 loss of methylation (LOM), but gonadal function seems to be unaffected in SRS females....

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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):P1P15. 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: P1p15; 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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ey0017.3-12 | Clinical trials for thyroid disease | ESPEYB17

3.12. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

S Groeneweg , RP Peeters , C Moran , A Stoupa , F Auriol , D Tonduti , A Dica , L Paone , K Rozenkova , J Malikova , A van der Walt , IFM de Coo , A McGowan , G Lyons , FK Aarsen , D Barca , IM van Beynum , MM van der Knoop , J Jansen , M Manshande , RJ Lunsing , S Nowak , CA den Uil , MC Zillikens , FE Visser , P Vrijmoeth , MCY de Wit , NI Wolf , A Zandstra , G Ambegaonkar , Y Singh , YB de Rijke , M Medici , ES Bertini , S Depoorter , J Lebl , M Cappa , L De Meirleir , H Krude , D Craiu , F Zibordi , I Oliver Petit , M Polak , K Chatterjee , TJ Visser , WE Visser

To read the full abstract: Lancet Diabetes Endocrinol. 2019;7:695706.The hallmarks of MCT8 deficiency are severe psychomotor retardation due to intracellular hypothyroidism in neuronal tissues and peripheral T3 thyrotoxicosis associated low weight, muscle wasting, high normal or increased heart rate and systolic blood pressure. TRIAC the T3 analogue 3,3,5-tri-iodothyroacetic acid enters target cells in an MCT8 independe...

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ESPE Yearbook of Paediatric Endocrinology

7.11. Gonadal function and pubertal development in patients with Silver-Russell syndrome

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

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

3.12. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

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