Endocrine Abstracts

Active acromegaly is associated with significant comorbidity and reduced quality of life. Cross-sectional studies have shown that quality of life did not significantly change in long-term cured acromegalic patients. However, the effect of medical treatment on the quality of life in the short term is unknown.We evaluated the quality of life by a disease-specific questionnaire in a longitudinal study before and after a 6-month course with somatostatin anal...

Exon 1 of AR gene contains a variable number of CAG triplets, which encode a polyglutamine stretch of variable length in the N-terminal domain of the receptor. Experimental evidence has accumulated in demonstrating that the length of this stretch influences AR transcriptional activity and therefore modulates target organs responsiveness to androgens. Aim of our study was to evaluate CAG repeats length [(CAGr)n] in various conditions hypothetically influenced by AR function. 35...

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors derived from chromaffin cells of the adrenal medulla and paraganglia of the autonomic nervous system, respectively. Despite a common origin, these tumors are quite heterogeneous in terms of driver mutations, copy number alterations and activated downstream-signaling pathways. Genome wide expression analysis has identified at least three main tumor clusters: a pseudo-hypoxic cluster, one with activation ...

Non-thyroidal illness syndrome is the alteration in thyroid function tests (TFTs) that occurs in critically ill patients, including those using thyrotoxic medications. Therefore, it is a challenge to interpret thyroid function tests in a critically ill patient on amiodarone. Case of 66-year-old male with history of heart failure with reduced ejection fraction, atrial fibrillation, and hypertension who presented to the emergency room due to progressive shortness of breath. Phys...

Introduction: Urinary free cortisol (UFC) determination has suboptimal sensitivity (SE) and specificity (SP) especially in mild Cushing’s syndrome (CS).Aim: To determine the performance of UFC and its metabolite cortisone (UFE) measured using accurate assays such as HPLC and LC–MS/MS in diagnosing patients with CS.Patients and methods: Sixty-seven patients with CS were compared to 49 sex- and age-matched non-CS. UFF and U...

Four patients with autoimmune hypophysitis were followed since the diagnosis of the disease. All presented with severe headache, decreased libido, astenia. Case 1 and 3 presented polyuria and polydipsia. At MRI pituitary was enlarged, with high gadolinum uptake and stalk enlargement.Case 1, male 41 years. MRI volume: AP 13 mm, CC 7 mm. Hormonal assessment: central hypothyroidism, hypoadrenalism, hypogonadism, normal GH and IGF1, hyperprolactinemia, centr...

Background: COVID-19 pandemic is a novel, potentially adverse condition for patients with adrenal insufficiency (AI), whose life expectancy and quality of life (QoL) are impaired due to their risk of infections and stress-triggered acute events. Therapeutic usefulness of glucocorticoids in COVID-19 is debated, but infected AI patients require prompt replacement tailoring.Objectives: In a cohort of AI patients, to assess:– the...

Background: Adults with GH deficiency (GHD) may have an increased risk of cardiovascular disease. Several studies showed that also GHD children may present cardiovascular risk factors. However results are controversial.Objective: Aim of this prospective, case-control study on a large cohort of children with GHD was to evaluate the effects of GHD and GH therapy on cardiovascular risk factors, such as lipid profile, clinical measures of visceral adiposity ...

Background: There is a great controversy on whether subclinical hypothyroidism (SH) in children should be treated for TSH values between 4.5 and 10 mU/l. In adults SH has been associated with abnormalities in lipid profile and increased risk of atherosclerosis. Data in untreated SH children are scanty.Objective: The aim of this cross-sectional controlled study was to evaluate in children the effects of long term untreated SH on lipid profile and endothel...

Background: Patients with classical congenital adrenal hyperplasia (CAH) require life-long therapy with glucocorticoids in order to suppress the androgen production through the inhibition of CRH and consequently ACTH. The therapy must be balanced to avoid either iatrogen hypercortisolism or hyperandrogenism both potentially associated with adverse cardiovascular risk profile.Objective: Aim of this cross-sectional controlled study was to investigate the m...