Abstract
BackgroundTo 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.MethodsFive untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. Genomic DNA from peripheral blood of the patients using QIAamp DNA Blood Kits was extracted. The three discrete regions, AZFa, AZFb and AZFc, located on the long arm of the Y chromosome, were performed by multiplex PCRs(Polymerase Chain Reaction) amplification. The set of PCR primers for the diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY.ResultsOur five patients had a lower body height. Physical examination revealed that their testes were small in volume, soft in texture and normal penis. Semen analyses showed azoospermia. All patients had a higher follicle-stimulating hormone(FSH), Luteinizing Hormone(LH) level, lower free testosterone, testosterone level and normal Estradiol, Prolactin level. Karyotype analysis of all patients confirmed 46, XX karyotype, and FISH analysis showed that SRY gene were positive and translocated to Xp. Molecular analysis revealed that the SRY gene were present, and the AZFa, AZFb and AZFc region were absent.ConclusionsThis study adds cases on the five new 46, XX male individuals with SRY-positive and further verifies the view that the presence of SRY gene and the absence of major regions in Y chromosome should lead to the expectance of a completely masculinised phenotype, abnormal hormone levels and infertility.
Highlights
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 sex-determining region Y gene (SRY)(sex-determining region Y)gene
There are several pathogenic mechanisms explaining 46, XX testicular disorder of sex development (DSD) patients: 1. translocation of Y sequences, including the SRY gene, to an X chromosome or to an autosome; 2. a mutation in a gene in the testisdetermining pathway triggering testis differentiation in SRY negative XX males; and 3. a hidden Y chromosome mosaicism limited to the gonad [10]
Endocrinological data indicated that the patients had a higher follicle-stimulating hormone (FSH), Luteinizing Hormone (LH) level, lower free testosterone, testosterone level and normal Estradiol, Prolactin level
Summary
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. Clinical phenotypes about 46, XX DSD have been identified to three groups, including males with normal phenotype, The sex-determining region Y gene (SRY) locating in Y chromosome, plays a major role in encoding a testis determining factor (TDF) [6,7]. About 90% of these patients have Y chromosomal material including the SRY gene, that are usually translocated to the distal tip of the short arm of X chromosome or autosomal chromosomes. Translocation of Y sequences, including the SRY gene, to an X chromosome or to an autosome; 2. There are several pathogenic mechanisms explaining 46, XX testicular DSD patients: 1. translocation of Y sequences, including the SRY gene, to an X chromosome or to an autosome; 2. a mutation in a gene in the testisdetermining pathway triggering testis differentiation in SRY negative XX males; and 3. a hidden Y chromosome mosaicism limited to the gonad [10]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
