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Dept. of Genetics, University Medical Center Groningen
dept. of Genetics
UMCG
Groningen
the Netherlands

FaCD Online Syndrome Fact Sheet

Last updated: 05 May 2008

Name: Gonadal Dysgenesis, 46 XX

Mode of Inheritance: spor / AR / XL

OMIM number: 233300   300510  

Genes

FSHR, mapped to 2p21-p16

Tumor features

ovarian dysgerminoma

Non-tumor features

hypergonadotropic hypogonadism
streak ovaries

Comment

Streak ovaries in 46,XX women is usually a sporadic condition, but familial and proven hereditary cases have been reported[1,2]. Dysgerminomas have been observed in sporadic as well as familial cases[2-5].

References

[1] Meyers CM, Boughman JA, Rivas M, Wilroy RS, Simpson JL. Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form. American journal of medical genetics 1996; 63(4):518-24.
[2] Namavar-Jahromi B, Mohit M, Kumar PV. Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis. Saudi medical journal 2005; 26(5):872-4.
[3] Maeyama M, Kagami T, Miyakawa I, Tooya T, Kawasaki N, Iwamasa T. Case report of dysgerminoma in a patient with 46,XX pure gonadal dysgenesis. Gynecologic oncology 1983; 16(3):405-13.
[4] Morimura Y, Nishiyama H, Yanagida K, Sato A. Dysgerminoma with syncytiotrophoblastic giant cells arising from 46,XX pure gonadal dysgenesis. Obstetrics and gynecology 1998; 92(4 Pt 2):654-6.
[5] Letterie GS, Page DC. Dysgerminoma and gonadal dysgenesis in a 46,XX female with no evidence of Y chromosomal DNA. Gynecologic oncology 1995; 57(3):423-5.

 
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