From Wikipedia, the free encyclopedia
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.
[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
References
^ 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 .
^ 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 .
^ 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 .
^ 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 .
^ 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 .
^ 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 .