FaCD Online Syndrome Fact Sheet

Last updated: 05 May 2008

Name: Swyer syndrome

Synonym: 46, XY Female Gonadal Dysgenesis, XY (Pure) Gonadal Dysgenesis

Mode of Inheritance: XL/ AR/ de novo

Genes

SRY, mapped to Yp11

Tumor features

ovarian chorionic carcinoma
ovarian dysgerminoma
ovarian endodermal sinus tumor
ovarian gonadoblastoma
ovarian teratoma

Tumor features (possible)

histiocytosis (reticuloendotheliosis), malignant

Non-tumor features

46, XY (constitutional)
hypergonadotropic hypogonadism
streak ovaries

Comment

This disorder is characterized by a female phenotype with streak ovaries, hypergonadotropic hypogonadism with amenorrhea and normal stature in the presence of a 46,XY chromosomal constitution. There is an increased risk to develop gonadoblastoma (30 % risk) and dysgerminoma [1-5,11,12]. Other tumors have also been reported: chorionic carcinoma [6], endodermal sinus tumor[7], teratoma[8]. Some of the tumors may show a complex mixture of several tumor types[9]. Koo et al.[10] reported a patient with ovarian teratoma and malignant histiocytoma.

References

[1] Lukusa T, Fryns JP, Kleczkowska A, Van den Berghe H. Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes. Genet Couns 1991; 2(1):9-16.
[2] Parker M, Barnhill D, Teneriello M, O'Connor D, Park R. Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. Obstet Gynecol 1992; 80(3 Pt 2):567-569.
[3] Barbosa AS, Ferraz-Costa TE, Semer M, Liberman B, Moreirafilho CA. XY gonadal dysgenesis and gonadoblastoma: A study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. Hum Genet 1995; 95:63-66.
[4] Gadducci A, Madrigali A, Simeone T, Facchini V, Singer MT, Marchetti G, Fioretti P. The association of ovarian dysgerminoma and gonadoblastoma in a phenotypic female with 46 XY karyotype. Eur J Gynaecol Oncol 1994; 15(2):125-131.
[5] Gourlay WA, Johnson HW, Pantzar JT, Mcgillivray B, Crawford R, Nielsen WR. Gonadal tumors in disorders of sexual differentiation. Urology 1994; 43(4):537-540.
[6] Spingler H, Albert PJ, Schmid M, Muller J. [Malignant germ cell tumor in XY gonadal dysgenesis (Swyer syndrome)]. Geburtshilfe Frauenheilkd 1990; 50(6):488-490.
[7] Morsy AH, al Fadly A, Mokhtar S, el Aasar EM, Farag TI. Swyer syndrome: an unusual presentation. Int J Gynaecol Obstet 1995; 49(2):185-186.
[8] Seraj IM, Chase DR, Chase RL, King A, Jacokes A. Malignant teratoma arising in a dysgenetic gonad. Gynecol Oncol 1993; 50(2):254-258.
[9] Bremer GL, Land JA, Tiebosch A, van der Putten HW. Five different histological subtypes of germ cell malignancies in an XY female. Gynecol Oncol 1993; 50(2):247-248.
[10] 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; 16(2):175-183.
[11] Behtash N, Karimi Zarchi M. Dysgerminoma in three patients with Swyer syndrome. World journal of surgical oncology 2007; 5():71.
[12] Zieliñska D, Zajaczek S, Rzepka-Górska I. Tumors of dysgenetic gonads in Swyer syndrome. Journal of pediatric surgery 2007; 42(10):1721-4.