Searchable abstracts of presentations at key conferences in endocrinology

ea0007p279 | Clinical case reports | BES2004

A novel 17 alpha hydroxylase mutation (CYP 17) associated with a pelvic germ cell tumour

Brooke A , Ahmad T , Taylor N , Shepherd J , Lin L , Achermann J , Rumsbey G , Gore M , Monson J

A 17 year old phenotypically female Middle Eastern patient presented with a short history of abdominal pain. Laparotomy and biopsy confirmed extensive mixed germ cell tumour with yolk sac elements. After referral to London, remission was achieved with 6 cycles of Bleomycin, Etoposide and Cisplatinum (alpha feta protein decreasing from 12 714 to 5 milli units per litre). Examination revealed short stature, absent pubertal development and primary amenorrhoea. She had palmar, buc...