Endocrine Abstracts

Nowadays Chronic Obstructive Pulmonary Disease (COPD) is not considered a lung specific disease: nutritional alteration, weight loss due to increased energetic expenditure, loss of muscle mass are systemic effects, correlated with the risk of hospitalization due to exacerbation (AECOPD). AECOPD, characterised by augmented indexes like C reactive protein, interleukin-6, procalcitonin and serum amyloid A (SAA), negatively influenced natural history of the illness and were found ...

Graves’ disease (GD) and gestational transient thyrotoxicosis (GTT) are the main causes of hyperthyroidism in pregnancy, their prevalence ranging between 0.1–0.4% and 0.3–11%, respectively.Aim of the study: To evaluate both prevalence and outcome of gestational hyperthyroidism in mild to moderate ID areas.Subjects and methods: 482 consecutive pregnant women who had never undergone thyroid function evaluation before a...

Context: Initial studies reported that RET rearrangements, RAS mutations and BRAF mutation are mutually exclusive genetic events in papillary thyroid carcinoma (PTC). Subsequently, simultaneous occurrence of BRAF mutation and RET/PTC or H4-PTEN has been described in few PTC cases, indicating that these genetic alterations might coexist in PTC in the same cell or in different cells, at least sporadically. In light of the recent finding that frequently BRAF mutation is present o...

Animal and observational studies suggest that the IGF axis is involved in the pathogenesis of ischemic stroke; moreover, endogenous IGF-I could influence the evolution of ischemic stroke in humans and thereby contribute to an improved clinical and functional outcome. To assess and correlate the IGF-I axis with biochemical parameters in young patients experiencing ischemic stroke (32 aged 15–45 years,19F, BMI: 25.5±3.4 kg/m2), we evaluated IGF-I, IGFBP-3, A...

X-linked hypophosphatemic rickets (XLH) is associated with mutations in PHEX, upregulation of FGF23, leading to hypophosphatemia, abnormal bone development and short stature. H-MAB to FGF23, Burosumab, is the new therapy for XLH. Among PHEX mutations, c.1586+6T >C, partially destroying the splice-site, is presumably associated to a mild phenotype not described so far. We describe two siblings bearing the PHEX c.1586+6T >C variant. Cas...

Background: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic disease (Covid-19) has caused millions of deaths worldwide, thus a massive SARS-CoV-2 vaccination campaign has been launched since the end of 2020. Viruses and vaccines can induce adverse thyroid effects; SARS-CoV-2 infection and vaccines have been associated with several thyroid disorders, especially subacute thyroiditis (SAT) and Graves’ disease (GD). We aimed to study the occurrence o...

A 57-year-old gentleman presented with a very sudden change in hair colour to bright white and eyebrow loss. On further questioning, he had been shaving much less and had not been getting any erections. On examination he had gynaecomastia. Initial blood tests showed hypogonadotrophic hypogonadism (LH 0.6 IU/l, FSH 0.1 IU/l, testosterone 1.6 nmol/l) with an otherwise normal anterior pituitary hormonal profile. Oestradiol was found to be significantly elevated at 582 pmol/l. He ...

We describe a case of a male who presented to a rheumatologist with hypercalceamia at the age of 22 in 1995. Investigations were incomplete and he was lost to follow up. He was referred to a general surgeon in 2002 as another blood test had showed hypercalcaemia of 2.8 mmol/l (2.2–2.6), parathyroid hormone 9.5 pmol/l (1.6–6.9). A spot urine calcium/creatinine excretion ratio was 0.014. It was felt he probably had primary hyperparathyroidism and he was managed conserv...

Glucocorticoid excess is associated with increased anxiety and accelerated cognitive decline. Concentrations of glucocorticoids within tissues, including the brain, are influenced by local metabolism. 5α-Reductase 1 (5αR1), expressed in brain, converts corticosterone to its A-ring reduced metabolites, which have a different spectrum of activities. Here, we investigated if mice homozygous for disrupted 5αR1 alleles (5αR1-KO) experience heightened anxiety and...

Men show an age-associated decline in 24-hour circulating testosterone levels, but the reason for this decline is unclear. To shed light on the possible cause we first established that male rhesus monkeys undergo a similar decline in testosterone with age. Testosterone from young adult (∼10 years) and old (∼26 years) unanaesthetized males was measured by RIA from blood samples collected remotely through a vascular catheter, every 30 minutes for 24 hours. In both yo...