Gonadal agenesis

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.[1] 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.[2]

Absence of both ovaries is much less common than absence of one ovary.[3] Bilateral ovarian agenesis has also been reported to co-occur with MRKH syndrome[4][5] and Cantú syndrome.[6]

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.
  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.
  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.
  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.
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