Xx Male Syndrome
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چکیده
The 46, XX disorder of sex development (DSD) is a rare form of sex reversal in infertile men, that was first described by la Chapelle et al. in 1964 and occurred 1:20 000 in newborns. Usually, it is caused by unequal crossingover between X and Y chromosomes during meiosis in the father, which results in the X chromosome containing the normally-male SRY gene. When this X combines with a normal X from the mother during fertilization, the result is an XX male.
منابع مشابه
Clinical Report Velocardiofacial Syndrome in an Unexplained XX Male
We report the unusual finding of velocardiofacial syndrome (VCF) in an unexplained 46,XX male. A microdeletion of 22q11.2 was confirmed by fluorescence in situ hybridization (FISH) analysis. Routine G-banded chromosome analysis revealed an XX sex chromosome constitution. FISH was performed using the SRY probe and failed to detect hybridization. The sex chromosome status of the patient was furth...
متن کاملXX testicular disorder of sex differentiation: case report.
The 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition detected by cytogenetics, in which testicular development occurs in the absence of the Y chromosome. It occurs in 1:20,000 to 25,000 male newborns and represents 2% of cases of male infertility. About 90% of individuals present with normal phenotype at birth and are generally diagnosed after puberty for...
متن کاملFeminizing genitoplasty for treatment of XX male with masculine genitalia.
XX male is a kind of sexual differentiation disorder that affects one out of every 20,000 to 25,000 male births. The patients have male phenotypes with female chromosomes, the karyotype 46XX. More than 150 XX males have been reported in the medical literature since Albert de la Chapelle first reported a male human with a pure XX sex chromosome constitution in 1964.1,2 Most patients with this co...
متن کاملThe Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male.
The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadis...
متن کاملI-43: Identification of SOX3 as an XX MaleSex Reversal Gene in Mice and Jumans
Background: Mammals utilise an XX/XY system of sex determination in which the Y-linked gene SRY (Sexdetermining region Y) exerts a dominant masculinising influence on sexual development. Sex chromosome homology and comparative sequence studies suggest that SRY evolved from the related SOX3 gene on the X chromosome, although there is no direct functional evidence to support this hypothesis. The ...
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