Gonadal agenesis

{{Short description|Medical condition}} {{Use dmy dates|date=July 2023}} '''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.<ref>{{cite journal |last1=Brauner |first1=Raja |last2=Neve |first2=Mathieu |last3=Allali |first3=Slimane |last4=Trivin |first4=Christine |last5=Lottmann |first5=Henri |last6=Bashamboo |first6=Anu |last7=McElreavey |first7=Ken |title=Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys |journal=PLOS ONE |date=2011 |volume=6 |issue=8 |article-number=e23292 |doi=10.1371/journal.pone.0023292 |pmid=21853106 |language=en |issn=1932-6203|pmc=3154292 |doi-access=free }}</ref> The corresponding condition in an individual with a female phenotype and 46,XX karyotype is called '''bilateral ovarian agenesis'''. However, gonadal agenesis is more common in people with an 46,XY karyotype.<ref>{{cite journal |last1=Dede |first1=Murat |last2=Gezginç |first2=Kazim |last3=Ulubay |first3=Mustafa |last4=Alanbay |first4=Ibrahim |last5=Yenen |first5=Müfit |title=A rare case of rudimentary uterus with absence of both ovaries and 46,XX normal karyotype without mosaicism |journal=Taiwanese Journal of Obstetrics & Gynecology |date=2008 |volume=47 |issue=1 |pages=84–86 |doi=10.1016/S1028-4559(08)60060-1 |pmid=18400588 |issn=1875-6263|doi-access=free }}</ref>

Absence of both ovaries is much less common than absence of one ovary.<ref>{{cite journal |last1=Chen |first1=H. Alexander |last2=Grimshaw |first2=Alyssa A. |last3=Taylor-Giorlando |first3=Melissa |last4=Vijayakumar |first4=Pavithra |last5=Li |first5=Dan |last6=Margetts |first6=Miranda |last7=Pelosi |first7=Emanuele |last8=Vash-Margita |first8=Alla |title=Ovarian absence: a systematic literature review and case series report |journal=Journal of Ovarian Research |date=2023 |volume=16 |issue=1 |page=13 |doi=10.1186/s13048-022-01090-1 |pmid=36642704 |issn=1757-2215|pmc=9841619 |doi-access=free }}</ref> Bilateral ovarian agenesis has also been reported to co-occur with MRKH syndrome<ref>{{cite journal |last1=Gorgojo |first1=Juan José |last2=Almodóvar |first2=Francisca |last3=López |first3=Elena |last4=Donnay |first4=Sergio |title=Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome |journal=Fertility and Sterility |date=2002 |volume=77 |issue=1 |pages=185–187 |doi=10.1016/S0015-0282(01)02943-0 |language=en |issn=0015-0282|doi-access=free }}</ref><ref>{{cite journal |last1=Plevraki |first1=Eirini |last2=Kita |first2=Marina |last3=Goulis |first3=Dimitrios G |last4=Hatzisevastou-Loukidou |first4=Hariklia |last5=Lambropoulos |first5=Alexandros F |last6=Avramides |first6=Avraam |title=Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-hauser syndrome |journal=Fertility and Sterility |date=2004 |volume=81 |issue=3 |pages=689–692 |doi=10.1016/j.fertnstert.2003.07.029 |language=en |issn=0015-0282|doi-access=free }}</ref> and Cantú syndrome.<ref>{{cite journal |last1=Fryssira |first1=Helena |last2=Psoni |first2=Stavroula |last3=Amenta |first3=Styliani |last4=Tsoutsou |first4=Eirini |last5=Sofocleous |first5=Christalena |last6=Manolakos |first6=Emmanouil |last7=Gavra |first7=Maria |last8=Lüdecke |first8=Hermann-Joseph |last9=Czeschik |first9=Johanna-Christina |title=Cantú Syndrome Associated with Ovarian Agenesis |journal=Molecular Syndromology |date=2017 |volume=8 |issue=4 |pages=206–210 |doi=10.1159/000471247 |pmid=28690487 |url=https://karger.com/msy/article/8/4/206/205332 |issn=1661-8769|pmc=5498943 }}</ref>

==References== {{reflist}}

Category:Congenital disorders of endocrine system Category:Congenital disorders of genital organs