Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep636 | Endocrine tumours and neoplasia | ECE2016

Hyperparathyroidism-jaw tumour syndrome in Adolescence

Hafeez Saba , Kalk John , Saqib Aaisha , Izzat Louise

Introduction: The hyperparathyroidism-jaw tumour syndrome is a rare autosomal, dominantly inherited disorder characterized by neoplastic or cystic lesions in parathyroid gland, jaws and the kidneys. With approximately 200 reported cases in literature this condition remains a challenge both diagnostically and in guiding further management.Case report: Seventeen year old scholar was seen by the maxillofacial department at Medway Hospital with 2 painless sw...

ea0052p01 | (1) | UKINETS2017

Genetics and diagnostic characterisation of bladder paragangliomas

Rafique Shaina , Surendran Aarthi , Joshi Mamta , Breen Louise , Velusamy Anand , Izzat Louise , McGowan Barbara , Powrie Jake , Carroll Paul V

Bladder Paragangliomas (PGLs) are a rare manifestation of sympathetic chain PGLs and occur in prone patients with SDH mutation.They often display an aggressive phenotype with metastatic disease and require long-term follow up. SDHB immunostaining plays a significant role in initial risk stratification and facilitating appropriate genetic testing. We report four cases illustrating diagnostic management and outcome issues in this rare neuroendocrine pathology; two with SDHB muta...