性腺無形成

性腺無形成（せいせんむけいせい、英: Gonadal agenesis）は、両方の生殖腺を欠く稀な疾患である。

核型が46,XYで、性腺以外の表現型が男性である場合、これは無精巣症（英: Anorchia）と呼ばれ、男児出生20,000人に1人の割合で発生する[1]。核型が46,XXで表現型が女性である場合は、両側卵巣無発生（英: (bilateral) Ovarian agenesis）と呼ばれる。性腺無発生は46,XYの核型を持つ人により多くみられる[2]。

両側の卵巣の欠如は、片側の卵巣の欠如（英語版）よりもはるかに少ない[3]。両側卵巣無発生は、MRKH症候群[4][5]やカントゥ症候群（英語版）[6]と併発することも報告されている。

関連項目

出典

  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” (英語). PLOS ONE 6 (8): e23292. doi:10.1371/journal.pone.0023292. ISSN 1932-6203. PMC 3154292. PMID 21853106. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154292/. 
  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. PMID 18400588. 
  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. PMID 36642704. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841619/. 
  4. ^ Gorgojo, Juan José; Almodóvar, Francisca; López, Elena; Donnay, Sergio (2002). “Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome” (英語). 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” (英語). 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 et al. (2017). “Cantú Syndrome Associated with Ovarian Agenesis”. Molecular Syndromology 8 (4): 206–210. doi:10.1159/000471247. ISSN 1661-8769. PMC 5498943. PMID 28690487. https://karger.com/msy/article/8/4/206/205332. 

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