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To read the full abstract: Lancet Diabetes Endocrinol. 2019, Jul; 7: 56074. doi: https://www.ncbi.nlm.nih.gov/pubmed/30803928This review provides a step-by-step approach for establishing the diagnosis in a newborn child with ambiguous genitalia. It compiles all recommended investigations in an excellent algorithm that comprises all established and emerging diagnostic tools, and put...

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ey0016.6-14 | Food for Thought in Transgender Medicine | ESPEYB16

6.14 Genetic link between gender dysphoria and sex hormone signaling

M Foreman , L Hare , K York , K Balakrishnan , FJ Sanchez , F Harte , J Erasmus , E Vilain , VR Harley

J Clin Endocrinol Metab. 2019 Feb 1;104(2):390396.doi: 10.1210/jc.2018-01105. PubMed PMID: 30247609.Polymorphisms in sex hormone genes have been described in gender dysphoric individuals with inconsistent findings. In this case-control study of 380 trans women and 344 control males, functional variants in 12 sex hormone signaling genes were studied. Significant a...

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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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ESPE Yearbook of Paediatric Endocrinology

6.2. A clinical algorithm to diagnose differences of sex development

6.14 Genetic link between gender dysphoria and sex hormone signaling

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

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