Endocrine Abstracts

Background, aims: Acromegaly is caused by excessive growth hormone (GH) secretion, usually by a pituitary adenoma. Surgical removal of the GH-producing adenoma is the most effective treatment. Drug treatment is second-line option. Earlier work suggested Soluble (s)Klotho levels to be a supplementary biomarker to IGF-1. We tested whether IGF-1 and sKlotho serum levels show a concomitant reduction under medical treatment. If yes, is the extent of reduction in serum IGF-1 and sKl...

Germline mutations account for hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) syndromes. SDHB immunostaining can be used to functionally characterise SDH status on PCC and PGL tumours. Genetic testing of multiple candidate genes is increasingly performed in patients presenting with PCC/PGL tumours. We investigated the effectiveness of SDHB immunostaining as an initial screening tool in identifying SDH mutations.This was a retrospecti...

Background: The recently published ‘Consensus on Criteria for Cure of Acromegaly’ (Giustina et al. JCEM, 2010) highlighted concerns regarding the quality of currently available insulin-like growth factor 1 (IGF1) immunoassays which may contribute, at least in part, to the discordance between GH and IGF1 that is observed in up to 30% of patients with acromegaly after treatment. The development of mass spectroscopy (MS)-based technology has been proposed ...

Myotonic Dystrophy is an autosomal dominant multi-system disorder characterised by muscle weakness and myotonia, with associated cardiac, ophthalmic, gastrointestinal and endocrine abnormalitiesA 16-year-old boy was referred with a 2 months history of difficulty releasing his hand-grip and problems with swallowing. The clinical diagnosis of myotonic dystrophy 1 was confirmed with genetic testing with the detection of a DMPK expansion mutation. During inv...

Neurological complications of thyroid disease are well recognised; however the distinct clinical entity of encephalopathy associated with autoimmune thyroid disease has been only occasionally reported in the paediatric population. We describe a case of Hashimoto’s encephalopathy (HE) in a teenage girl.A 13-year-old girl presented with seizures and prolonged confusion. Baseline blood tests, CSF analysis and CT Brain were essentially normal. She was d...

Pain due to bone metastases can be relieved by local radiotherapy (RT). The mechanism of pain relief by RT has not been fully elucidated. Inhibition of bone resorption has been proposed as a possible mechanism. Osteoprotegrin (OPG) has been shown to block behaviours indicative of pain in mice with bone metastases and to diminish bone destruction (Honore et al., 2000, Nature Medicine 6; 521–8).The aim of this study was to evaluate serum OPG le...

Mutations in the RET gene are responsible for Multiple Endocrine Neoplasia type 2A (MEN2A), characterised by Medullary Thyroid Carcinoma (MTC) and Pheochromocytoma (PCC). It is well recognised that there is a genotype-phenotype correlation regarding likelihood of endocrine tumour development. The American Thyroid Association (ATA) has published predictive grading to guide clinical management of patients with RET mutations.Aim: In this study, we aim to as...

IntroductionParagangliomas (PGLs) are neuroendocrine tumours that arise from neural crest-derived chromaffin cells. They can develop anywhere these cells exist from the base of the skull to the pelvis. All PGLs have neuro-secretory potential and can produce symptoms due to catecholamine excess. While the majority are benign they do have malignant potential. Mediastinal PGLs are rare and often have a strong genetic predisposition. A higher proportion of t...

Thyroglossal duct cysts are the most frequently occurring congenital cervical anomaly, however the development of Papillary Thyroid Cancer (PTC) in these are very rare, with an incidence around 1%. We present two cases of PTC identified in thyroglossal duct cysts from our services. A 26-year-old lady with a 1-year history of midline neck swelling, was investigated with a neck ultrasound which showed a 2.8cm septated thyroglossal duct cyst and U2 thyroid cyst. She underwent a F...

Introduction: Pycnodysostosis (PYCD) is a rare autosomal recessive disorder caused by a mutation in cathepsin K (CTSK) gene resulting in increased bone density. The condition is characterised by short stature, acro-osteolysis of distal phalanges, osteosclerosis with increased bone fragility, dysplastic clavicula, delayed closure of sutures, mandibular hypoplasia, dental crowding and upper airway obstruction, causing obstructive sleep apnoea syndrome (OSAS). We...