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Gonadal agenesis

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(Redirected from Vanishing testes syndrome) Medical condition

Gonadal agenesis is a rare condition where an individual lacks both gonads.

If the karyotype is 46,XY and the individual otherwise has a male phenotype, it is called anorchia; this occurs in one of 20,000 male births. The corresponding condition in an individual with a female phenotype and 46,XX phenotype is called bilateral ovarian agenesis. However, gonadal agenesis is more common in people with an 46,XY karyotype.

Absence of both ovaries is much less common than absence of one ovary. Bilateral ovarian agenesis has also been reported to co-occur with MRKH syndrome and Cantú syndrome.

See also

References

  1. Brauner, Raja; Neve, Mathieu; Allali, Slimane; Trivin, Christine; Lottmann, Henri; Bashamboo, Anu; McElreavey, Ken (2011). "Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys". PLOS ONE. 6 (8): e23292. doi:10.1371/journal.pone.0023292. ISSN 1932-6203. PMC 3154292. PMID 21853106.
  2. Dede, Murat; Gezginç, Kazim; Ulubay, Mustafa; Alanbay, Ibrahim; Yenen, Müfit (2008). "A rare case of rudimentary uterus with absence of both ovaries and 46,XX normal karyotype without mosaicism". Taiwanese Journal of Obstetrics & Gynecology. 47 (1): 84–86. doi:10.1016/S1028-4559(08)60060-1. ISSN 1875-6263. PMID 18400588.
  3. Chen, H. Alexander; Grimshaw, Alyssa A.; Taylor-Giorlando, Melissa; Vijayakumar, Pavithra; Li, Dan; Margetts, Miranda; Pelosi, Emanuele; Vash-Margita, Alla (2023). "Ovarian absence: a systematic literature review and case series report". Journal of Ovarian Research. 16 (1): 13. doi:10.1186/s13048-022-01090-1. ISSN 1757-2215. PMC 9841619. PMID 36642704.
  4. Gorgojo, Juan José; Almodóvar, Francisca; López, Elena; Donnay, Sergio (2002). "Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome". Fertility and Sterility. 77 (1): 185–187. doi:10.1016/S0015-0282(01)02943-0. ISSN 0015-0282.
  5. Plevraki, Eirini; Kita, Marina; Goulis, Dimitrios G; Hatzisevastou-Loukidou, Hariklia; Lambropoulos, Alexandros F; Avramides, Avraam (2004). "Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-hauser syndrome". Fertility and Sterility. 81 (3): 689–692. doi:10.1016/j.fertnstert.2003.07.029. ISSN 0015-0282.
  6. Fryssira, Helena; Psoni, Stavroula; Amenta, Styliani; Tsoutsou, Eirini; Sofocleous, Christalena; Manolakos, Emmanouil; Gavra, Maria; Lüdecke, Hermann-Joseph; Czeschik, Johanna-Christina (2017). "Cantú Syndrome Associated with Ovarian Agenesis". Molecular Syndromology. 8 (4): 206–210. doi:10.1159/000471247. ISSN 1661-8769. PMC 5498943. PMID 28690487.
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