Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
Open Access
- 28 August 2014
- journal article
- Published by Springer Nature in BMC Urology
- Vol. 14 (1) , 70
- https://doi.org/10.1186/1471-2490-14-70
Abstract
To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene.Keywords
This publication has 27 references indexed in Scilit:
- The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile MaleJournal of Clinical and Diagnostic Research, 2013
- SRY protein function in sex determination: thinking outside the boxChromosome Research, 2011
- Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal DysgenesisPLOS ONE, 2011
- Identification of New Susceptibility Regions for X;Y Translocations in Patients with Testicular Disorder of Sex DevelopmentSexual Development, 2010
- Hidden X Chromosomal Mosaicism in a 46,XX MaleSexual Development, 2009
- Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domainJournal of Medical Genetics, 2009
- Genetic characterization of two 46,XX males without gonadal ambiguitiesJournal of Assisted Reproduction and Genetics, 2008
- Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failureAndrologia, 2007
- An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16Fertility and Sterility, 2006
- XX Sex Chromosomes in a Human MaleActa Medica Scandinavica, 1964