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ey0018.6-1 | Basic and Genetic Research of DSD | ESPEYB18

6.1. Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes

AD Bird , BM Croft , M Harada , L Tang , L Zhao , Z Ming , S Bagheri-Fam , P Koopman , Z Wang , K Akita , VR Harley

Hum Mol Genet. 2020 Aug 3;29(13):21482161. doi: doi:10.1093/hmg/ddaa100. https://www.ncbi.nlm.nih.gov/pubmed/32452519This study explores the hitherto unknown role of FGF9 in human testis development. The authors use two mouse models that phenocopy the skeletal defects of dominant FGF9 mutations that cause skelet...

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ey0019.11-3 | New findings in adipose tissue biology | ESPEYB19

11.3. Isthmin-1 is an adipokine that promotes glucose uptake and improves glucose tolerance and hepatic steatosis

Z Jiang , M Zhao , L Voilquin , Y Jung , MA Aikio , T Sahai , FY Dou , AM Roche , I Carcamo-Orive , JW Knowles , M Wabitsch , EA Appel , CL Maikawa , JP Camporez , GI Shulman , L Tsai , ED Rosen , CD Gardner , BM Spiegelman , KJ Svensson

katrinjs@stanford.edu Cell Metab 2021; 33(9): 18361852.e11http://www.ncbi.nlm.nih.gov/pubmed/34348115Brief Summary: This rodent study identified a novel adipokine in mice which triggers a signaling cascade similar to that of insulin. By acting via an unknown tyrosine kinase, isthmin-1 (ISM1) ameliorates metabolic disturbances associated wit...

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ey0021.6-2 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

KL Ayers , S Eggers , BN Rollo , KR Smith , NM Davidson , NA Siddall , L Zhao , J Bowles , K Weiss , G Zanni , L Burglen , S Ben-Shachar , J Rosensaft , A Raas-Rothschild , A Jorgensen , RB Schittenhelm , C Huang , G Robevska , J van den Bergen , F Casagranda , J Cyza , S Pachernegg , DK Wright , M Bahlo , A Oshlack , TJ O'Brien , P Kwan , P Koopman , GR Hime , N Girard , C Hoffmann , Y Shilon , A Zung , E Bertini , M Milh , B Ben Rhouma , N Belguith , A Bashamboo , K McElreavey , E Banne , N Weintrob , B BenZeev , AH Sinclair

Brief Summary: This translational study reveals a novel mechanism underlying syndromic gonadal dysgenesis (GD). It introduces a condition termed INDYGON syndrome (Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY GONadal dysgenesis).46,XY gonadal dysgenesis (GD) is a rare disorder of sex development (DSD) affecting 1-9 per 100,000 live births. Gen...

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ESPE Yearbook of Paediatric Endocrinology

6.1. Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes

11.3. Isthmin-1 is an adipokine that promotes glucose uptake and improves glucose tolerance and hepatic steatosis

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

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