Endocrine Abstracts

Androgens play an important role in the development and the maintenance of the normal prostate gland. Androgen Receptor (AR) signaling is also critical during the initiation and development of prostate cancer that may present with a range of genomic lesions possibly due to DNA repair defects. We first noted a significant correspondence between DNA breakpoints and AR binding sites supporting the inter-related action that hormone regulation plays a role on genomic events. We hyp...

Case report: Potocki-Lupski Syndrome (PTLS) with obesityEiman Naghmuish1, Marisa Clemente1, Kamal Weerasinghe11Department of Paediatrics, Wrexham Maelor Hospital, Betsi Cadwaladr University Health Board, The UK.Introduction: Potocki-Lupski syndrome (PTLS) is a rare genetic disorder affecting 1:20.000 people worldwide, it is caused b...

Tumor-induced osteomalacia (TIO) or ‘oncogenic osteomalacia’ is a rare paraneoplastic disorder, usually resulting from Fibroblast Growth Factor 23 (FGF23) oversecretion by a benign small ‘phosphaturic mesenchymal tumor’, causing hypophosphatemia and reduced 1,25-dihydroxyvitamin D synthesis. Calcium and parathyroid hormone (PTH) levels are usually normal, but secondary/tertiary hyperparathyroidism has been reported in up to 5% of the cases, mainly due to 1,...

Pheochromocytoma is a rare catecholamine-secreting tumour arising from chromaffin cells in the adrenal medulla and one of the main causes of endocrine hypertension. We here report the case of a 48-year old man admitted to the Internal Medicine Department for evaluation of resistant hypertension. The patient presented with headache, sweating, palpitations, pitting edema, hypertension and hypokalemia both resistant to conventional polytherapy. He was therefore investigated for e...

Introduction: Reactive hypoglycaemia (RH) is a complex problem, with no definite treatment apart from lifestyle changes.Methods: We used Sitagliptin in two patients with RH, who had tried lifestyle changes for at least 2 years but without much effect. A gentleman with initial BMI of 31.4 kg/m2 and another lady of BMI 24.1 kg/m2 was treated with Sitagliptin 100 and 50 mg daily, in view of their weight and thereby volume of distributi...

Background: The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic disease (Covid-19) is associated with the onset of thyroid dysfunction via multiple mechanisms. Patients hospitalised for severe Covid-19 disease may develop painless atypical thyroiditis coexisting with non-thyroidal illness syndrome, which determines transient thyrotoxicosis with quick restoration of euthyroidism during the following weeks. However signs of thyroiditis at ultrasound and sci...

Objectives: SARS CoV-2 infections have been associated with the onset of classic subacute thyroiditis (SAT) or atypical SAT, observed in 10-15% of patients hospitalized for severe COVID19 disease (COV-A-SAT) and characterized by absence of neck pain, mild thyrotoxicosis associated with non-thyroidal illness syndrome and thyroiditis-like areas which may persist in the thyroid gland up to 12 months following SARS-CoV-2 infection, despite normalization of thyroid function. Little...

Objective: Since the relationship between thymic hyperplasia (TH) and Graves’ Disease (GD) is of paramount importance for diagnostic and therapeutic choices, a wider knowledge of this association is required for endocrinologists in routine clinical practice. Our aim was to assess the prevalence, the clinical features, and the response to treatment of GD-related TH in an Academic referral centre.Methods: All consecutive cases of GD-related TH at Univ...

Aim of the study: recurrence or persistence of hyperthyroidism occur in 15-25% of cases after radioiodine therapy (RAI) in Graves’ disease (GD). Our study aimed to establish prognostic factors affecting RAI outcome and to investigate if a tailored dosimetric approach based on the application of the “effective biological dose” (BED) offered a higher chance of success.Materials and methods: our cohort comprised 365 GD patients (280 women and...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. 30% of cases are related with genetic causes, with FGFR1 mutations being identified in 10%. There are more than 140 FGFR1 gene mutations identified. We present a female patient with KS due to a FGFR1 mutation, where the presenting features included primary amenorrhoea and anosmia.Case description: ...