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]
^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. PMC3154292. 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. PMC9841619. 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.
gonadal, agenesis, rare, condition, where, individual, lacks, both, gonads, karyotype, individual, otherwise, male, phenotype, called, anorchia, this, occurs, male, births, corresponding, condition, individual, with, female, phenotype, phenotype, called, bilat. 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 Cantu syndrome 6 References edit 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 Gezginc Kazim Ulubay Mustafa Alanbay Ibrahim Yenen Mufit 2008 A rare case of rudimentary uterus with absence of both ovaries and 46 XX normal karyotype without mosaicism Taiwanese Journal of Obstetrics amp 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 Jose Almodovar Francisca Lopez 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 Kuster 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 Ludecke Hermann Joseph Czeschik Johanna Christina 2017 Cantu Syndrome Associated with Ovarian Agenesis Molecular Syndromology 8 4 206 210 doi 10 1159 000471247 ISSN 1661 8769 PMC 5498943 PMID 28690487 nbsp This article about an endocrine nutritional or metabolic disease is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Gonadal agenesis amp oldid 1188186426, wikipedia, wiki, book, books, library,
