Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Dec;52(11):e13739.
doi: 10.1111/and.13739. Epub 2020 Sep 3.

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

Omer Salih Akar  1 , Sezgin Gunes  2 , Ummet Abur  1 , Engin Altundag  1 , Ramazan Asci  3 , Onur Emre Onat  4 , Tayfun Ozcelik  4 , Gonul Ogur  1
Affiliations

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

Omer Salih Akar et al. Andrologia. 2020 Dec.

Abstract

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.

Keywords: SRY-positive 46,XX male; X chromosome inactivation; array-CGH; infertility.

PubMed Disclaimer

References

REFERENCES

    1. Abur, U., Gunes, S., Ascı, R., Altundag, E., Akar, O. S., Ayas, B., … Ogur, G. (2019). Chromosomal and Y chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions. Andrologia, 51, e13402. https://doi.org/10.1111/and.13402
    1. Akinsal, E. C., Baydilli, N., Demirtas, A., Saatci, C., & Ekmekcioglu, O. (2017). Ten cases with 46, XX testicular disorder of sex development: Single center experience. International Brazilian Journal of Urology, 43(4), 770-775. https://doi.org/10.1590/S1677-5538.IBJU.2016.0505
    1. Anik, A., Catli, G., Abaci, A., & Bober, E. (2013). 46, XX male disorder of sexual development:A case report. Journal of Clinical Research in Pediatric Endocrinology, 5(4), 258-260. https://doi.org/10.4274/Jcrpe.1098
    1. Aslan, Y., Atan, A., Omur Aydin, A., Nalcacioglu, V., Tuncel, A., & Kadioglu, A. (2011). Penile length and somatometric parameters: A study in healthy young Turkish men. Asian Journal of Andrology, 13(2), 339-341. https://doi.org/10.1038/aja.2010.109
    1. Bouayed Abdelmoula, N., Portnoi, M.-F., Keskes, L., Recan, D., Bahloul, A., Boudawara, T., … Rebai, T. (2003). Skewed X chromosome inactivation pattern in SRY positive XX maleness: A case report and review of literature. Annales de Genetique, 46(1), 11-18. https://doi.org/10.1016/S0003-3995(03)00011-X

LinkOut - more resources