ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2020

6. Differences/Disorders of Sex Development and Transgender Medicine

Differences/Disorders of Sex Development: Reviews

ey0017.6-1 | Differences/Disorders of Sex Development: Reviews | ESPEYB17

6.1. Molecular characterization of XX maleness

RP Grinspon , RA Rey

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...

ey0017.6-2 | Differences/Disorders of Sex Development: Reviews | ESPEYB17

6.2. A clinical algorithm to diagnose differences of sex development

NY Leon , AP Reyes , VR Harley

To read the full abstract: Lancet Diabetes Endocrinol. 2019, Jul; 7: 560–74. 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...