FaCD Online Syndrome Fact Sheet

Last updated: 05 May 2008

Name: Mixed Gonadal Dysgenesis

Synonym: 45,X/46,XY Gonadal Dysgenesis

Mode of Inheritance: not applicable

Tumor features

ovarian gonadoblastoma
seminoma
testicular gonadoblastoma

Tumor features (possible)

cervix, adenocarcinoma of the
mesothelioma, peritoneal
vaginal cancer

Non-tumor features

45, X/46, XY (or variants)
genitourinary differentation defect
hypergonadotropic hypogonadism

Comment

Characteristic is the presence of both gonadal ovarian/streak and testicular histological features (often asymmetrical gonadal differentiation: unilateral testicular dysgenesis and contralateral streak gonad[1]). Typically 45,X/46,XY mosaics, or other mosaics with SRY-gene containing Y material are found. The phenotype of 45,X/46,XY ranges from male to female (with more or less features of Turner syndrome) and ambiguous states in between, depending on the distribution of the various cell lines in the different organs.
There is an increased risk to develop gonadoblastomas, dysgerminomas/seminomas, juvenile granulosa cell tumors [2-12,15,16] and possibly also for ovarian serous cystadenocarcinoma[13]. In one exceptional case peritoneal mesothelioma was diagnosed[14] and clear cell adenocarcinoma of the cervix and vagina has been reported as well[17].

References

[1] Jirasek JE. Testicular dysgenesis syndromes. Birth Defects Orig Artic Ser 1971; 7(6):159-165.
[2] 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.
[3] Nonomura N, Nakamura M, Namiki M, Kiyohara H, Mizutani S, Okuyama A, Sonoda T. Mixed gonadal dysgenesis: case reports and a review of 65 Japanese cases. Arch Androl 1991; 26(1):15-19.
[4] Fukamatsu Y, Tsukahara Y, Hayashi S, Yoshikawa F, Fukuta T. Bilateral gonadoblastoma producing steroid hormones in a patient with 45,X/46,XY gonadal dysgenesis. Gynecol Obstet Invest 1990; 30(3):189-191.
[5] Wallace TM, Levin HS. Mixed gonadal dysgenesis. A review of 15 patients reporting single cases of malignant intratubular germ cell neoplasia of the testis, endometrial adenocarcinoma, and a complex vascular anomaly. Arch Pathol Lab Med 1990; 114(7):679-688.
[6] Kulkarni JN, Kamat MR, Borges AM. Bilateral synchronous tumors in testes in unrecognized mixed gonadal dysgenesis: a case report and review of literature. J Urol 1990; 143(2):362-364.
[7] Uchida A, Esa A, Uemura T, Kurita T, Okuyama A. [Mixed gonadal dysgenesis and gonadal tumor--growth of seminoma after 27 years of an exploratory laparotomy]. Hinyokika Kiyo 1989; 35(10):1781-1785.
[8] Beheshti M, Hardy BE, Mancer K, McLorie G, Churchill BM. Neoplastic potential in patients with disorders of sexual differentiation. Urology 1987; 29(4):404-407.
[9] Young RH, Lawrence WD, Scully RE. Juvenile granulosa cell tumor--another neoplasm associated with abnormal chromosomes and ambiguous genitalia. A report of three cases. Am J Surg Pathol 1985; 9(10):737-743.
[10] Robboy SJ, Miller T, Donahoe PK, Jahre C, Welch WR, Haseltine FP, Miller WA, Atkins L, Crawford JD. Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases. Hum Pathol 1982; 13(8):700-716.
[11] Donahoe PK, Crawford JD, Hendren WH. Mixed gonadal dysgenesis, pathogensis, and management. J Pediatr Surg 1979; 14(3):287-300.
[12] Tanaka Y, Sasaki Y, Tachibana K, Suwa S, Terashima K, Nakatani Y. Testicular juvenile granulosa cell tumor in an infant with X/XY mosaicism clinically diagnosed as true hermaphroditism. Am J Surg Pathol 1994; 18(3):316-322.
[13] Miller DS, Teng NN, Ballon SC. Epithelial ovarian carcinoma in patients with intersex disorders: the role of pituitary gonadotropins in ovarian tumorigenesis. Gynecol Oncol 1986; 24(3):299-308.
[14] Bannayan GA, Richardson JD, Short AD, McFee AS. Peritoneal mesothelioma in a male pseudohermaphrodite with asymmetrical gonadal differentiation. Am J Clin Pathol 1978; 69(4):457-461.
[15] Haddad NG, Walvoord EC, Cain MP, Davis MM. Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. The Journal of pediatrics 2003; 143(1):136.
[16] Kriplani A, Agarwal N, Parul , Sharma MC, Manchanda R. Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis. The journal of obstetrics and gynaecology research 2003; 29(2):63-6.
[17] Resnik E, Christopherson WA, Stock R. Clear cell adenocarcinoma of the cervix and vagina in a woman with mixed gonadal dysgenesis. A case report. The Journal of reproductive medicine 1989; 34(12):981-4.