Endocrine Abstracts

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...

Background: Phaeochromocytomas and paragangliomas (PPGLs) are histologically identical tumours that exhibit significant clinical heterogeneity. At least 40% of PPGLs arise due to the presence of a pathogenic germline variant (PGV) in a known susceptibility gene. PGVs affecting the mitochondrial enzyme succinate dehydrogenase (SDHA, SDHB, SDHC and SDHD) are the most common. Phenotypic features of PPGLs secondary to SDHB and SDHD PGVs are well...

Background: Cortisol has a suppressive effect on corticotroph proliferation. In Cushing’s disease (CD), the relative resistance to glucocorticoid (GC) action may favor corticotroph tumor formation and autonomous ACTH secretion.Objective: To analyze the consequences of long-term GC exposure on corticotroph tumor cell proliferation and to evaluate the modification of gene expression attributable to prolonged GC treatment.Methods...