Endocrine Abstracts

In the West of Scotland there is a monthly joint Genetic / Endocrine clinic aiming to centralise management and ensure appropriate screening of individuals with, or at risk of, hereditary endocrine disorders including MEN. This clinic has a designated Genetic Counsellor as well as Consultant Geneticist, Endocrine Nurses and Endocrine Clinicians. The successful collaboration between the departments has led to an increase in expertise on both sides and awareness of the other spe...

Phaeochromocytomas (PHAEOs) and extra-adrenal paragangliomas (PGLs) are rare neuroendocrine tumours. As many as 35% may have an identifiable germline mutation, most commonly in the genes encoding RET, VHL or subunits of succinate dehydrogenase (SDHx).[123I]-labelled metaiodobenzylguanidine (123I-MIBG) scintigraphy is used to localise PHAEOs/PGLs, while 131I-MIBG is used as therapy in malignant disease. Uptake of radioisot...

Introduction: Patients with mutations in the Succinate Dehydrogenase Complex Subunit B (SDHB) gene are predisposed to neuroendocrine tumours such as parangangliomas, phaeochromocytomas and gastrointestinal stromal tumours. Individuals who are carriers but have no manifestation of disease require regular surveillance. Our tertiary endocrine service provides follow up/surveillance for these patients and we cover a wide geographical area throughout the West of Scotland.<p cla...

Vandetenib has been used as novel treatment of locally invasive medullary carcinoma of thyroid. We report the use of Vandetenib in a paediatric patient with inoperable medullary carcinoma of thyroid gland. Our patient presented to the dental surgeons at age 12 years with tongue and lip swellings. Biopsy demonstrated mucosal neuromas suggestive of MEN2B. He was clinically euthyroid but had a firm goitre. Ultrasound showed a large heterogenous thyroid mass encasing the common ca...

Phaeochromocytomas (PHAEO)/paragangliomas (PGL) are neuro-endocrine tumours. They may present sporadically or as the primary abnormality in a number of familial syndromes. Advances in molecular genetics have led to the identification of several PHAEO/PGL predisposing genes including VHL, NF1 and RET. Mutations in the genes encoding the subunits of Succinate Dehydrogenase (SDH) have also been reported. We describe the phenotype of a cohort of patients with a Succinate Dehydroge...