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To read the full abstract: Int J Mol Sci. 2019, Dec 3; 20. doi: https://www.ncbi.nlm.nih.gov/pubmed/31816857This excellent review approaches the diagnostic investigations in DSD from the perspective of an individual with 46,XX DSD. It provides valuable information for clinicians investigating an individual with 46,XX testicular DSD.The knowledge of gene dosage effe...

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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: 436681. 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

6.1. Molecular characterization of XX maleness

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

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