hrp0082p1-d3-16 | Adrenals & HP Axis (1) | ESPE2014

A Novel Mutation in Exon 5 of TP53 Gene in a Familial Adrenocortical Carcinoma

Simsek Enver , Binay Cigdem , Tokar Baran , Dundar Emine , Demiral Meliha

Background: Adrenocortical carcinoma (ADCC) is a rare cancer in children and differs significantly in epidemiology, clinical characteristics, and biologic features from their counterparts in adults. Germline mutations of the TP53 tumor suppressor gene are associated with cancer predisposition in families with the Li-Fraumeni syndrome.Aim: To report a young girl with family a history of ADCC who presented with severe virilisation secondary to ADC...

hrp0082p3-d1-956 | Sex Development | ESPE2014

Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Syndrome

Simsek Enver , Binay Cigdem , Tokar Baran , Kabukcuoglu Sare , Ustun Melek

Background: Ovotesticular disorder of sexual development (DSD is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side.Objective and hypotheses: To discuss rare cases of ovotesticular DSD and one of the novel findings of these cases.Methods and patients: Case 1 is the first child of unrelat...