XX male syndrome
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| XX male syndrome | |
| Classification and external resources | |
| OMIM | 278850 |
|---|---|
XX male syndrome (also called de la Chapelle syndrome, for a researcher who characterized it in 1972[1]) is a rare sex chromosomal disorder. Usually it is caused by unequal crossing over between X and Y chromosomes during meiosis.
It is less common than Klinefelter syndrome.[2]
Contents |
[edit] Presentation
Symptoms include small testes, gynecomastia and sterility. Many individuals with this condition also have effeminate characteristics.
[edit] Pathophysiology
Men typically have one X chromosome and one Y chromosome in each diploid cell of their bodies. Women typically have two X chromosomes.
So-called XX males have two X chromosomes; thus they are genetically female but otherwise appear to be male.
[edit] See also
- Swyer syndrome
- X chromosome, for other diseases related to the X chromosome.
[edit] References
- ^ de la Chapelle A (1972). "Analytic review: nature and origin of males with XX sex chromosomes". Am J Hum Genet 24 (1): 71–105. PMID 4622299.
- ^ Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E (September 2007). "Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients". J. Clin. Endocrinol. Metab. 92 (9): 3458–65. doi:. PMID 17579198. http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=17579198.
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