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46,XX/46,XY Ovotesticular Differences of Sex Development

MedGen UID:
927565
•Concept ID:
C4290033
•
Congenital Abnormality

Definition

Ovotesticular differences of sex development in individuals with 46,XY/46,XX mosaic karyotype. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XX/46,XY Ovotesticular Differences of Sex Development

Recent clinical studies

Diagnosis

Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.
van Bever Y, Wolffenbuttel KP, Brüggenwirth HT, Blom E, de Klein A, Eussen BHJ, van der Windt F, Hannema SE, Dessens AB, Dorssers LCJ, Biermann K, Hersmus R, de Rijke YB, Looijenga LHJ
Sex Dev 2018;12(1-3):145-154. Epub 2017 Sep 20 doi: 10.1159/000479946. PMID: 28926831Free PMC Article
Ovotesticular disorder of sexual development (true hermaphroditism).
Berger-Zaslav AL, Mehta L, Jacob J, Mercado T, Gadi I, Tepperberg JH, Palmer LS
Urology 2009 Feb;73(2):293-6. Epub 2008 Sep 26 doi: 10.1016/j.urology.2008.08.428. PMID: 18822450

Clinical prediction guides

Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.
van Bever Y, Wolffenbuttel KP, Brüggenwirth HT, Blom E, de Klein A, Eussen BHJ, van der Windt F, Hannema SE, Dessens AB, Dorssers LCJ, Biermann K, Hersmus R, de Rijke YB, Looijenga LHJ
Sex Dev 2018;12(1-3):145-154. Epub 2017 Sep 20 doi: 10.1159/000479946. PMID: 28926831Free PMC Article
Ovotesticular disorder of sexual development (true hermaphroditism).
Berger-Zaslav AL, Mehta L, Jacob J, Mercado T, Gadi I, Tepperberg JH, Palmer LS
Urology 2009 Feb;73(2):293-6. Epub 2008 Sep 26 doi: 10.1016/j.urology.2008.08.428. PMID: 18822450

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