Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep1091 | Endocrine tumours | ECE2015

Mutation in CDKN1B 3′-UTR region in a patient with acromegaly and primary hyperparathyroidism

Mamedova Elizaveta , Mokrysheva Natalia , Pigarova Ekaterina , Przhiyalkovskaya Elena , Vasiliev Evgeniy , Rozhinskaya Lyudmila , Tiulpakov Anatoliy

Introduction: Multiple endocrine neoplasia type 4 (MEN4) is a rare disorder, caused by inactivating mutations in CDKN1B gene that encodes p27kip1 cyclin-dependent kinase inhibitor. To date nine different germline CDKN1B mutations have been described in patients with clinical features of multiple endocrine neoplasia type 1 (MEN1) negative for MEN1 mutations (MEN1 phenocopies).Case report: We present a female 54 y.o. w...