Endocrine Abstracts

In a small but not negligible proportion of thalassemic patients, a true growth hormone deficiency (GHD), not secondary to pubertal delay, can be documented. Among the features of adult GHD syndrome, osteoporosis leads to a 2.5-fold increase in fracture risk. Thalassemia is characterized by a peculiar bone disease leading to osteopenia. The effectiveness of GH treatment in GHD adult thalassemic patients has not been explored yet. We report here the case of such a patient, disp...

Background: Emergency staff are under pressure to assess and refer within tight targets. Two adolescents presented to A&E with psychiatric symptoms, were referred to Child and Adolescent Mental Health (CAMH), but fortunately came to our attention and were diagnosed with thyroid disorders.Case 1: Fifteen-year-old boy presented with a two week history of disturbing auditory hallucinations and was referred to CAMH. He was commenced on antipsychotic medi...

The diagnostic approach to GH deficiency (GHD) in obese patients is complicated by the reduced spontaneous and stimulated GH secretion associated with overweight. A GH response to GHRH+arginine lower than 4.2 μg/l is currently considered indicative of GHD in obesity (Corneli et al., Eur J Endocrinol 2005). Aim of the study was to verify the diagnostic validity of this cut-off value by investigating the effect of acute pharmacological blockade of lipolysis on...

In thalassemic patients individual values of BMD measured by traditional DEXA are lower than those determined by QCT. The reason for this discrepancy is still controversial.Aim: To investigate bone features in a large group of thalassemic patients, compared with patients with anorexia nervosa, also characterized by precocious osteoporosis.Study design: Forty-six adult thalassemic subjects and 25 anorectic women were studied. In all...

Introduction: Patients with transfusion-dependent β-thalassemia (TDT) frequently exhibit elevated urinary calcium excretion, contributing to kidney stone formation and osteoporosis. The underlying mechanism of hypercalciuria in β-thalassemia remains elusive, with FGF23 playing a potential role. FGF23, a bone-derived hormone, primarily acts on the kidneys by inhibiting phosphate reabsorption in the proximal tubules while enhancing calcium uptake in the distal tubules....

Introduction: Previous data from our group suggested a role for the GH/IGF1 axis in the pathophysiology of osteoporosis in thalassemia (Clin Endocrinol 69:202, 2008). The present study was aimed at evaluating the relationships between circulating IGFs and bone metabolism and density in a very large series of adult thalassemic patients.Study design: One hundred and thirty-nine patients affected by thalassemia major (mean age 32.3±7.87 years) underwen...

GH and IGF-I exert an important role in the control of bone formation. Osteopenia and osteoporosis are a frequent recurrence in patients with thalassemia. Due to the high prevalence of GH deficiency (GHD) in adult thalassemic patients (Scacchi et al., Clin Endocrinol 2007), we investigated the possible role of GH - IGF-I abnormalities in the pathogenesis of the osteopenia/osteoporosis of this disease.Study: Sixty-four adult thalassemic pati...

GH deficiency (GHD) can be recognized in a not negligible proportion of thalassemic children, while data on the prevalence of this disorder in adult patients are lacking. Therefore, we elected to study the GH – IGF-I axis in a large group of adult thalassemic subjects.Study design: Ninety-four patients (69 with thalassemia major and 25 with thalassemia intermedia on stable transfusional regimen, 39 men and 55 women, aged 31.5±6.8 years, receivi...

Background: Patients with transfusion-dependent β -thalassemia (TDT) often experience several endocrine complications, including diabetes mellitus (DM). In TDT, the reliability of glycated haemoglobin (HbA1c) assessment is compromised due to elevated erythrocytes turnover and frequent transfusions. Glycated Albumin (GA), a product of non-enzymatic albumin glycation, has been investigated as a medium-term glycaemic marker (21 days) in the general diabetic population. Since...

Background: Patients with Multiple Endocrine Neoplasia type 2 (MEN2) without previous family history often present late with advanced Medullary Thyroid Cancer (MTC). Surgery is not always curative but RET tyrosine kinase pathway is a potential target for molecular treatment for progressive MTC.Methods: Retrospective review of clinical, genetic, biochemical (calcitonin, CEA) and imaging (US, CT/MRI, Gallium Dotate) data of children with MEN2 who developed...