Gonadal agenesis explained

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]

See also

• Gonadal dysgenesis
• Hypogonadism

Notes and References

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