Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases.

Autor: Akar OS; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Gunes S; Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Abur U; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Altundag E; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Asci R; Department of Urology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey., Onat OE; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Ozcelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Ogur G; Department of Medical Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Jazyk: angličtina
Zdroj: Andrologia [Andrologia] 2020 Dec; Vol. 52 (11), pp. e13739. Date of Electronic Publication: 2020 Sep 03.
DOI: 10.1111/and.13739
Abstrakt: 46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex-determining region Y (SRY)-positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY-positive 46,XX TDSD and give the details and follow-up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY-positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.
(© 2020 Wiley-VCH GmbH.)
Databáze: MEDLINE
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