FaCD Online Syndrome Fact Sheet

Last updated: 05 Mar 2008

Name: Arrhenoblastoma and Thyroid Adenoma, Familial

Synonym: incl.: Arrhenoblastoma, Familial Clustering

Mode of Inheritance: AD

Tumor features

ovarian Sertoli-Leydig cell tumor
thyroid adenoma
thyroid hyperplasia / goitre

Tumor features (possible)

hamartomatous polyps in small intestine
ovarian mucinous cystadenoma
Wilms' tumor (nephroblastoma)

Comment

A number of families with multiple cases of ovarian Sertoli-Leydig cell tumors (arrhenoblastomas) have been reported. In some of these families thyroid adenomas, often multiple were also present in some of the relatives with ovarian tumors as well as in relatives without these tumors[1;2]. A mucinous cystadenoma was reported twice in these families and one case of Wilms tumor was reported[1]. In the proband published by O'Brien et al.[2], a hamartous polyp was removed from the small intestine at the age of 3 months. Could this disorder be a variant of Cowden syndrome or Peutz-Jeghers syndrome?

References

[1] Jensen RD, Norris HJ, Fraumeni jr JF. Familial arrhenoblastoma and thyroid adenoma. Cancer 1974; 33:218-223.
[2] O'Brien PK, Wilansky DL. Familial thyroid nodulation and arrhenoblastoma. Am J Clin Pathol 1981; 75(4):578-581.