Endocrine Abstracts

Introduction: Milder forms of central hypothyroidism (CeH) are still challenging to diagnose due to absence of gold standards, wide variability of fT4 values and aspecificity of symptoms. We aimed to find diagnostic clues at diagnosis (pituitary lesion dimensions, other hormonal deficit) and during long-term follow-up, guiding the clinician to a precocious diagnosis of CeH.Study: 142 patients harbouring a pituitary adenoma with complete pituitary assessm...

Objectives: Factitious disorder imposed on self or Munchausen’s syndrome (MS), is a psychiatric disorder in which physical symptoms are intentionally produced without any practical benefit. Patients with MS represent a diagnostic dilemma as laboratory and clinical results can be inconsistent with the history and physical exam. The aim of this study was to evaluate the role of the levothyroxine overload test to differentiate MS from malabsorption and to treat life-threaten...

Diagnosis of Central Hypothyroidism (CeH) is commonly given when FT4 concentrations are below the lower limit of normal range. A reduction in FT4 concentrations greater than 20% was proposed in ETA 2018 Guidelines as an unphysiological fluctuation indicating the onset of milder forms of CeH with FT4 still within the normal range. Similarly, TSH-index was proposed to quantify thyrotrope reserve, hence as a tool to detect patients at risk of CeH. Here we verified the performance...

Osteoporosis causes bone fragility usually affecting the elderly. Genetic susceptibility plays a crucial role in determining the risk of fragility fractures and is involved in early-onset osteoporosis. When fragility fractures or low bone mineral density (BMD) occur in young adults without evident secondary osteoporosis, an underlying monogenetic bone disease should be assessed. The list of genes related to low BMD and their mutations is increasing. Nevertheless, little is kno...

X-linked hypophosphatemia (XLH) is a rare genetic disease due to inactivation of the PHEX gene, which results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23); the latter induces renal phosphate wasting and hypophosphatemia. Skeletal and dental anomalies and recently described increase in cardiovascular risk are typical clinical findings. We retrospectively evaluated 58 adult patients with XLH from 9 Italian tertiary centres [34 females, 24...