Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep1192 | Clinical Cases–Pituitary/Adrenal | ECE2015

Coexistence of ovary tumour, congenital adrenal hyperplasia and triple translocation involving chromosome 9,11 and 12: Initial steps of defining new syndrome?

Akbulut Sami , Durmaz Senay Arikan , Tuncali Timur , Sogutcu Nilgun

Introduction and aim: Congenital adrenal hyperplasia (CAH) is rare autosomal recessive disease. CAH due to 21-hydroxylase deficiency accounts for 95% of cases. We aim to define in this report 59-year-old woman with simple virilizing type CAH who diagnosed granulosa cell tumour and I172N mutation in the CYP21A as well as triple translocation involving chromosome 9p, 11p and 12p at first time in the literature.Case report: A 59-year-old woman was applied t...