Endocrine Abstracts

Transthyretin (TTR) is a plasma and cerebrospinal fluid (CSF)-circulating protein. Besides the primordially attributed systemic role as transporter molecule of thyroxine (T4) and retinol (through the binding to retinol-binding protein (RBP)), TTR has been recognised as a protein with important functions in several aspects of the nervous system physiology. TTR has been shown to play an important role in behaviour, cognition, amidated neuropeptide processing, and nerv...

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Introduction: Acromegaly is a rare disease with a high morbidity and mortality rate.Our aim was to characterise the population with acromegaly that is currently under supervision at our Department.Materials and methods: We included 104 patients with acromegaly (mean age at the diagnosis 44.0±13.0; with 71.2% females).The referred population was analysed on what concerns disease’s duration, clinical ...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an important cause of primary adrenocortical insufficiency (PAI) in men. It’s characterized by impairment in peroxisomal degradation of very-long-chain-fatty-acids (VLCFA), leading to its accumulation on central nervous system, adrenal cortex and testes.Adrenomyeloneuropathy, the most common phenotype of X-ALD, coexists with PAI in up to 70% cases.Case report: A 28-year-ol...

Introduction: Primary hyperparathyroidism is the most common cause for hypercalcemia. Familial benign hypocalciuric hypercalcemia (FBHH) is an unusual autosomal dominant disease. The mutation in the calcium sensing receptor (CaSR) determines a shift to the right in the calcemia set-point that inhibits PTH secretion. Generally asymptomatic, these patients present with mild hypercalcemia and hypophosphatemia, normal or slightly increased PTH levels and hypocalciuria. Daily calci...

Introduction: Acromegaly is a rare disease which results from a GH producing adenoma. Around 70–80% are macroadenomas. The therapeutic options currently available are surgery, radiotherapy (RT) and medical treatment (MT). According to literature microadenomas have a higher remission rate, around 80%.Methods: A retrospective chart review of the patients with acromegaly treated in our centre from 1976 to 2011 was performed. In terms of disease control...