XX male syndrome

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XX male syndrome
OMIM 278850

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XX male syndrome

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Overview

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]

Presentation

Symptoms include small testes, gynecomastia and sterility. Many individuals with this condition also have effeminate characteristics.

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.

See also

References

  1. 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.
  2. 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:10.1210/jc.2007-0447. PMID 17579198.
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