Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin

Journal of the Formosan Medical Association = Taiwan Yi Zhi
Han-Sun ChiangJiann-Loung Hwang

Abstract

XX male is a rare sex chromosomal disorder in infertile men. The purpose of this study was to distinguish the clinical and genetic features of the 46,XX male syndrome from other more frequent, testicular-origin azoospermic causes of male infertility. To study 46,XX male syndrome, we compared clinical and endocrinological parameters to other groups with testicular-origin azoospermia, and to an age-matched group of healthy males and females as normal control. Fluorescent in situ hybridization for detection and localization of the sex-determining region of the Y gene (SRY), array-based comparative genomic hybridization screening, and real-time qualitative polymerase chain reaction of FGF9, WT1, NR5A1, and SPRY2 genes were performed in this genetic investigation. Our three patients with 46,XX male syndrome had a much higher follicular-stimulating hormone level, lower body height, lower testosterone level, and ambiguous external genitalia. One of the three patients with 46,XX male syndrome was SRY-negative. A further genetic study, including a comparative genomic hybridization array and real-time polymerase chain reaction, showed a gain of FGF9 copy numbers only in the SRY-negative 46,XX male. The genetic copy number of the FGF9 gen...Continue Reading

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Citations

Jun 15, 2016·Asian Journal of Andrology·Ahmad MajzoubEdmund Sabanegh
Dec 9, 2017·Fetal and Pediatric Pathology·Gizem Ürel DemirMehmet Alikaşifoğlu
Feb 6, 2016·Clinical Science·Ingrid KnarstonAndrew Sinclair
May 27, 2020·Human Molecular Genetics·Anthony D BirdVincent R Harley
May 1, 2020·Frontiers in Endocrinology·Romina P GrinsponRodolfo A Rey
Dec 11, 2019·International Journal of Molecular Sciences·Romina P Grinspon, Rodolfo A Rey
Apr 4, 2021·International Journal of Molecular Sciences·Francesca CioppiCsilla Krausz

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