hrp0094p2-429 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

4-year-old female patient with mixed germ cell tumor and underlying Cowden syndrome

Habacht Daniela , Boztug Heidrun , Engstler Gernot , Kager Leo , Boztug Kaan , Pauer Sophie , Amann Gabriele , Zeitlhofer Petra , Riedl Stefan

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral en...