Endocrine Abstracts

IntroductionHematological neoplastic mass lesions of the sellar region are rare.Aim of the studyTo analyze a case series of patients with hematological malignancies affecting sellar region.Patients and methodsA retrospective study of 1166 patients with sellar lesions diagnosed at Department of Neuroendocrinology over the 16-year period (2005-2020).The demographics...

Pituitary development involves a number of genes encoding signaling molecules and transcription factors. Genetic mutations of any of these factors are implicated in the aetiology of congenital hypopituitarism. The phenotypes of patients with pituitary development disorders might be highly variable depending on the type and severity of deficiencies and the age of diagnosis. A diagnosis of congenital pituitary hormone deficiency must be suspected when other causes of hypopituita...

Introduction: Amiodarone is an effective drug for treating heart arrhythmias. High iodine content and specific metabolism of this drug, in 15-20% of patients lead to thyroid function disorder. Amiodarone induced thyrotoxicosis (AIT type 1 or type 2) usually occurs during the use of the drug, while it is rare after the drug cessation.The aim: A case report of a patient with type 2 AIT that manifested after the cessation of short-term amiodarone treatment....

Skeletal muscle infarction is an uncommon manifestation of poor diabetic control. This report describes a gentleman who presented with two weeks of thigh pain and swelling, and had been referred to hospital for exclusion of deep vein thrombosis (DVT). His right thigh was markedly swollen, but soft. There was marked tenderness at the medial aspect. Right thigh circumference was 61 cm, while the left was 48.5 cm. There was no warmth or erythema. He had a full range of movements ...

We present the case of a 65 year old woman with history of difficult to control essential hypertension for many years, and subarachnoid haemmorhage in 1992 requiring insertion of surgical clips for aneurysms at both internal carotid arteries and right middle cerebral arteries.She presented in 2004 with a 3 week history of headaches and a history over one year of increasing size of her hands, feet and nose, goiter and hoarse voice. Serum IGF-1 was 84 nmol...

Introduction: Hidradenitis suppurativa (HS) is a chronic and debilitating inflammatory skin disease, that is characterised by painful lesions in apocrine gland-bearing areas. Patients also present with significantly increased rates of cardiovascular risk factors, such as dyslipidaemia, diabetes, metabolic syndrome. Adalimumab a fully human IgG1 monoclonal antibody that specifically binds to TNF-α is an established treatment for HS. Combined hormonal contraception is commo...

A previously well 75 year old man, presented with progressive right sided weakness and ataxia of three months duration that had worsened considerably during the previous 3 weeks. On examination, there was right hemiparesis, marked ataxia, sluggish pupillary responses and an extensive right sided visual field deficit confirmed by formal visual field testing. CT brain large suprasellar mass extending into pituitary fossa. MRI brain confirmed it to be a large pituitary macroadeno...

Background: Medullary thyroid carcinoma (MTC) is a rare calcitonin producing neuroendocrine tumour that originates from parafollicular C-cells of the thyroid gland. RET proto-oncogene germline mutations are crucial for the onset and the progression of MTC, and the occurrence of single nucleotide polymorphisms could predispose the clinical course of disease. The objective of this study was to evaluate possible differences in clinical presentation among patients with/without RET...

Background: Medullary thyroid cancer (MTC) makes up to 5–10% of all cases of thyroid malignancies. The clinical course of MTC varies from an extremely indolent tumour to an aggressive variant that is associated with a high mortality rate. RET proto-oncogene germline mutations are crucial for the onset and the progression of MTC. The aim of this study was to evaluate the L769L (subgroup L) and S836S (subgroup S) allele frequencies in patients with sporadic MTC (group A, <e...

Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the calcitonin-secreting neuroendocrine parafollicular cells of the thyroid. It accounts for 5–10% of all thyroid cancers, and it mostly occurs as a sporadic entity (sMTC), but a familial pattern is also possible. Somatic mutations of RET are reported in 20–80% of sMTCs. The majority of MTCs harbour a RET M918T-exon 16 mutation. In sporadic MTCs the RET gene is mutated in codon 918, w...