XY gonadal dysgenesis
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)
See also
intersex
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