XX male syndrome

XX male syndrome
Other namesDe la Chapelle syndrome[1]
Human karyotype 46 XX
SpecialtyMedical genetics Edit this on Wikidata

XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype.[2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD)[3][4][5][6]

In 90 percent of these individuals, the syndrome is caused by the Y chromosome's SRY gene, which triggers male reproductive development, being atypically included in the crossing over of genetic information that takes place between the pseudoautosomal regions of the X and Y chromosomes during meiosis in the father.[2][7] When the X with the SRY gene combines with a normal X from the mother during fertilization, the result is an XX male. Less common are SRY-negative XX males, which can be caused by a mutation in an autosomal or X chromosomal gene.[2] The masculinization of XX males is variable.

This syndrome is diagnosed and occurs in approximately 1:20,000 new-born males, making it much less common than Klinefelter syndrome.[8][9][10] Medical treatment of the condition varies, with medical treatment usually not necessary. The alternative name for XX male syndrome, de la Chapelle syndrome, refers to Finnish scientist Albert de la Chapelle, who first described the condition.[11]

  1. ^ Cite error: The named reference De1985 was invoked but never defined (see the help page).
  2. ^ a b c 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". The Journal of Clinical Endocrinology and Metabolism. 92 (9): 3458–3465. doi:10.1210/jc.2007-0447. PMID 17579198.
  3. ^ "46,XX testicular disorder of sex development – Genetics Home Reference". Archived from the original on 2019-05-17. Retrieved 2017-01-08.Public Domain This article incorporates text from this source, which is in the public domain.
  4. ^ "Orphanet: 46,XX testicular disorder of sex development". www.orpha.net. Archived from the original on 2017-01-13. Retrieved 2017-01-12.
  5. ^ Délot EC, Vilain EJ (2003). "Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development". In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Fong CT, Mefford HC, Smith R, Stephens K (eds.). GeneReviews. University of Washington, Seattle. PMID 20301589. Archived from the original on 18 January 2017. Retrieved 12 January 2017.updated 2015
  6. ^ "46,XX testicular disorder of sex development: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 2020-09-15. Retrieved 2020-09-06.
  7. ^ Andersson M, Page DC, de la Chapelle A (August 1986). "Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males". Science. 233 (4765): 786–788. Bibcode:1986Sci...233..786A. doi:10.1126/science.3738510. PMID 3738510. S2CID 32456133.
  8. ^ de la Chapelle A (August 1981). "The etiology of maleness in XX men". Human Genetics. 58 (1): 105–116. doi:10.1007/bf00284157. PMID 6945286. S2CID 26425178.
  9. ^ Berglund A, Johannsen TH, Stochholm K, Aksglaede L, Fedder J, Viuff MH, et al. (August 2017). "Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study". Human Reproduction. 32 (8): 1751–1760. doi:10.1093/humrep/dex210. PMID 28854582.
  10. ^ Berglund A, Stochholm K, Gravholt CH (June 2020). "The epidemiology of sex chromosome abnormalities". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 184 (2): 202–215. doi:10.1002/ajmg.c.31805. PMID 32506765.
  11. ^ Delachapelle A, Hortling H, Niemi M, Wennstroem J (1964-01-12). "XX sex chromosomes in a human male. First case". Acta Medica Scandinavica. 175 (SUPPL 412): 25–28. doi:10.1111/j.0954-6820.1964.tb04630.x. PMID 14154995.