Endocrine Abstracts

Patients with resistance to thyroid hormone β (RTHβ) often display a neurocognitive phenotype, but the underlying biological defects have not been characterized. The predominant receptor isoform expressed in brain tissue is TRα1 leading to the assumption that this receptor accounts for most of the T3 effects. Nevertheless, TRα and TRβ are both expressed in brain therefore our study aims to understand the impact of a mutant THRβ on TH action in the...

Background: thyroid function (TSH levels) and thyroid autoimmunity are involved in the immunomodulation of early pregnancy stages and can affect assisted reproductive technology (ART).Aims: 1) to evaluate if pre-conceptional TSH is associated with an increased risk of miscarriage, 2) to identify a TSH cut-off significantly associated with risk of miscarriage, 3) to assess the impact of TSH levels on primary and surrogate outcomes.M...

Introduction: TSH-secreting pituitary adenomas (TSHomas) are a rare cause of central hyperthyroidism, accounting for less than 1% of all pituitary adenomas, with a prevalence in the general population of 1-2 cases per million.Case Presentation: A 45-year-old female patient presented in 2009 with hypertension and tachycardia: blood tests revealed an inappropriately normal TSH with high fT3/fT4 levels and primary hyperaldosteronism. She declined further in...

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...

TSH is involved in the immunomodulation of early pregnancy stages. Thyroid guidelines have indicated 2.5 mU/l as the best TSH level below which women undergoing assisted reproductive technology (ART) need to be maintained, though this treshold is still controversial. Aims of the present study were to evaluate if pre-conceptional TSH is associated with an increased risk of miscarriage, to identify a TSH cut-off significantly associated with risk of miscarriage and to assess the...

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Approximately 30% of patients with PPNAD are sporadic cases and the other are familial. We describe a case of a patient affected by PPNAD presenting with isolated arterial hypertension. A 19-year-old black female patient was referred to the Endocrinology Unit in september-2021 due to severe arterial hypertension and fatigue. Previous clinical history was un...

A seasonal occurrence of Graves’ disease (GD) has been reported in previous studies, with a peak of frequency in the warmer half of the year (Ford 1988, 1991, Westphal 1994) or the period of the year with a higher iodine intake (Phillips 1985); other studies (Facciani 2000) have failed to find a different seasonal occurrence of Graves’ orbitopathy (GO). Aim of the present study was to evaluate a possible seasonal difference in the onset of GD and GO in a series of ou...

Thyroid hormone (TH) action is required for the adequate brain development. While TRα1 is recognized as the predominant receptor mediating most of these effects in brain tissue, the expression of both TRα and TRβ during development prompts further examination on their respective role. The study aims to investigate the role of TRβ during cortical neuron differentiation, taking advantage of induced pluripotent stem cells (iPSCs) obtained from patients with re...

Aim: The aim of this retrospective study was to assess the efficacy of different doses of rituximab (RTX) in patients with active moderate-severe Graves’ Orbitopathy (GO).Methods: Overall 40 patients, 5 M/35 F; mean age (± S.D.) 58±11 years were treated with RTX; 21 were smokers. The patients received the following treatment: 14 patients (group 1) a single 100 mg dose; 15 patients (group 2) a single 500 mg dose and 11 Patien...

Previous studies have shown that Rituximab (RTX) is effective as a disease modifying drug at doses of 500 mg or 1000×2 mg in active Graves’ orbitopathy (GO). We have conducted a pilot study (EUDRACT 2012-001980-53) in which patients with active moderate-severe GO were treated with a single infusion of low dose RTX (100 mg). Ten patients were enrolled of whom seven completed the study at 52 weeks. Five patients did not respond to a previous treatment with i.v. methylp...