Gonadal dysgenesis, XY female type, is associated with point mutations or deletions of the SRY gene (MIM.480000), but also in some cases with changes in the X chromosome.
At birth the patients with the XY female type of gonadal dysgenesis (Swyer syndrome) appear to be normal females; however, they do not develop secondary sexual characteristics at puberty, do not menstruate, and have ’streak gonads.’ They are chromatin negative and have a 46,XY karyotype.
Synopsis
normal female phenotype
absence of secondary sexual characteristics at puberty
amenorrhea
dysgenetic gonad
streak gonads (unidentifiable fibrovascular streak gonad)
gonadal tumors
- gonadoblastoma +/- bilateral (8514986)
- gonadal germ cell tumors
- gonadoblastoma overgrown by dysgerminoma (7243139)
- gonadal choriocarcinoma (1695883, 8696173)
- gonadoblastoma and choriocarcinoma association (8696173)
- dysgenetic gonad with mixed germ cell tumors associating malignant teratoma, dysgerminoma, yolk sac tumor, choriocarcinoma
- true histiocytic malignancy associated with a malignant teratoma (1346359)
Etiology
SRY inactivating mutations (15%)
Xp21.2 interstitial duplication containing the DAX1 gene (DAX1 duplications at Xp11.2) (17504899)
deletion of terminal 9p (including DMRT) (17644778)
See also
intersex
mixed gonadal dysgenesis
References
Koo CH, Reifel J, Kogut N, Cove JK, Rappaport H. True histiocytic malignancy associated with a malignant teratoma in a patient with 46XY gonadal dysgenesis. Am J Surg Pathol. 1992 Feb;16(2):175-83. PMID: 1346359
Dumic M, Jukic S, Batinica S, Ille J, Filipovic-Grcic B. Bilateral gonadoblastoma in a 9-month-old infant with 46,XY gonadal dysgenesis. J Endocrinol Invest. 1993 Apr;16(4):291-3. PMID: 8514986