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]
^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.
Gonadalagenesis is a rare condition where an individual lacks both gonads. If the karyotype is 46,XY and the individual otherwise has a male phenotype...
failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis...
agenesis is a condition where one or both ovaries are congenitally absent. It may refer to: Unilateral ovarian agenesis XX gonadal dysgenesis Gonadal...
of gonadal dysgenesis are dependent on the aetiology and severity of the underlying causes. Pure gonadal dysgenesis 46,XX also known as XX gonadal dysgenesis...
caused by cervical agenesis can lead to hematocolpos, hematosalpinx, endometriosis, endometrioma and pelvic adhesions. Cervical agenesis arises during fetal...
ovary, and true agenesis where the ovary never formed during development. It is much more common than having no functional ovaries (XX gonadal dysgenesis)...
pterygium syndrome Corpus callosum, connecting the two sides of the brain, in agenesis of the corpus callosum Cerebellum caused by mutation in the reelin gene...
with the deafness. The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome...
accompany this disorder as well. Also referred to as Müllerian agenesis, vaginal agenesis, or Müllerian aplasia, this disorder affects 1 in every 4,000-5...
endocrine glands can occur as a result of loss of reserve, hyposecretion, agenesis, atrophy, or active destruction. Hyperfunction can occur as a result of...
anencephaly (absence of a major portion of the brain, skull, and scalp), agenesis of the corpus callosum (lack of the thick tract of nerve fibers that connect...
functions of the gonads in both sexes. Follicle-stimulating hormone stimulates sex cell production; luteinizing hormone stimulates gonadal hormone production...
highly similar to a mouse protein that causes gonadalagenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in...
The main differentials for CAIS are complete gonadal dysgenesis (Swyer syndrome) and Müllerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome or MRKH)...
such as Turner syndrome (most common cause in girls), XX gonadal dysgenesis, and XY gonadal dysgenesis, problems in the ovarian hormone synthesis pathway...
can occur when this system is disrupted ranging from uterine and vaginal agenesis to the duplication of unwanted cells of the uterus and vagina. Paramesonephric...
development. Though external genitalia is generally normal, underlying gonadal dysfunction is frequent, including ovarian dysfunction or an unusually...
Leydig cell hypoplasia (or aplasia) (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive genetic and endocrine syndrome affecting an...
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