Endocrine Abstracts

MELAS syndrome is a progressive neurodegenerative disorder characterized by a combination of mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes and endocrine disorders. The frequency of hypoparathyroidism in MELAS syndrome is less than 0.5%. A 22-year-old female was admitted to our center due to episodes of seizures. At admission her height was 147.5 cm, weight 30.5 kg, BMI 13.8 kg/m2. She reported whole life weight and growth retardation, hearin...

Introduction: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is the most common type of NF and one of the most frequent human genetic diseases. Gynaecomastia due to pseudoangiomatous stromal hyperplasia (PASH) in patients with NF1 is quite a rare complication but still it should be differentiated from gynecomastia caused by other conditions.Clinical case: A 30-year-old man, previously diagnosed with NF1 at the age of 19,...

Background: Familial partial lipodystrophy type 2 (Dunnigan syndrome and FPLD2) is a rare genetic disorder, associated with different metabolic abnormalities, especially insulin resistant diabetes mellitus, dyslipidaemia, hepatic steatosis, and cirrhosis, cardiovascular disease, and cardiomyopathy, kidney disease.Clinical case: A 20-year-old patient first presented with changed appearance due to abnormal subcutaneous fat tissue redistribution (lipodystro...

Background: Werner syndrome is a rare autosomal recessive disease caused by a mutation of the DNA helicase gene (WRN), characterized by the premature onset of multiple age-related disorders.Objective: To describe unusual multiple endocrine and metabolic disorders in three unrelated clinical cases of Werner syndrome.Methods: Three patients with obvious clinical features of premature ageing were referred to an endocrinologist due to ...

Background: Cardiovascular disease is an important cause of morbidity/mortality in chronic GH hypersecretion.Aim: To evaluate cardiovascular system in a large series of patients with pituitary gigantism. Standard case report forms were used with height assessments related to local country norms. Results: 151pts (123 male) with GH-excess and abnormal growth velocity for age or final height >2SD over local norms had complete data on cardiac assessments...