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


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


Jan 1, 1981·Human Genetics·A de la Chapelle
Nov 1, 1996·Journal of Pediatric Endocrinology & Metabolism : JPEM·A RegoR V García-Mayor
Jun 13, 2000·International Journal of Andrology·H S ChiangY T Chen
Jul 4, 2002·Fertility and Sterility·M Angels RigolaCarme Fuster
Feb 6, 2003·Fertility and Sterility·Claire R QuilterKay E Taylor
Jun 24, 2003·Annales de génétique·Nouha Bouayed AbdelmoulaTarek Rebai
Aug 2, 2003·Urologia Internationalis·Marta Moreno-GarcíaEmilia Barreiro Miranda
Jan 18, 2005·Fertility and Sterility·Angelo ValettoPaolo Simi
Mar 9, 2005·Journal of Pediatric Endocrinology & Metabolism : JPEM·Anca Grigorescu-SidoMarkus Bettendorf
Oct 5, 2005·Journal of Pediatric Endocrinology & Metabolism : JPEM·Berrin Ergun-LongmireMaria I New
Mar 25, 2006·Molecular Human Reproduction·Singh RajenderKumarasamy Thangaraj
Jun 14, 2006·Fertility and Sterility·Johannnes G DauwerseMartijn H Breuning
Aug 3, 2006·Pediatrics·Peter A LeeUNKNOWN International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European
Apr 9, 2008·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·S G TemelG Scherer
Apr 17, 2008·American Journal of Medical Genetics. Part a·Rosa QueraltEster Margarit
Oct 25, 2008·Journal of Pediatric Urology·I A HughesUNKNOWN Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group

❮ Previous
Next ❯


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

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Journal of Endocrinological Investigation
R SeliceC Foresta
The Journal of Urology
V M Pais, P Vasudevan
Fertility and Sterility
M Angels RigolaCarme Fuster
© 2021 Meta ULC. All rights reserved