Painful ovulation in a 46,XX SRY −ve adult male with SOX9 duplication

46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 prese...

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Vydáno v:Endocrinol Diabetes Metab Case Rep
Hlavní autoři: Shankara Narayana, Nandini, Kean, Anne-Maree, Ewans, Lisa, Ohnesorg, Thomas, Ayers, Katie L, Watson, Geoff, Vasilaras, Arthur, Sinclair, Andrew H, Twigg, Stephen M, Handelsman, David J
Médium: Artigo
Jazyk:Inglês
Vydáno: Bioscientifica Ltd 2017
Témata:
Unique/Unexpected Symptoms or Presentations of a Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5467653/
https://ncbi.nlm.nih.gov/pubmed/28620497
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-17-0045
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