Endocrine Abstracts

Introduction: POEMS syndrome is a rare multisystemic disorder including polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma-proliferative disorder and skin changes. We aim to describe the course of the endocrine disease in the context of this paraneoplastic syndrome.Methods: 69 patients with POEMS have been under the MDT care in our hospital. Data is currently available for 32 patients who attended the joint haematological/neurological/endocr...

A 22-year-old Caucasian female was referred to thyroid specialist clinic due to difficulties fully suppressing her thyroid stimulating hormone (TSH) despite high dose combination therapy of triiodothyronine (T3) and thyroxine (T4) treatment. She had a well-differentiated thyroid -carcinoma of left thyroid lobe treated with left lobectomy. Several other small primary thyroid carcinoma lesions were detected on further examination of the histology which lead to completion thyroid...

Nicotinamide nucleotide transhydrogenase (NNT) is an integral protein of the inner mitochondrial membrane and plays a major role in maintaining the redox balance by catalysing the trans-hydrogenation between NADH and NADP+ and proton translocation across the mitochondrial membrane.Genetic variants in NNT have recently been reported in patients with familial glucocorticoid deficiency (FGD), combined mineralocorticoid and glucocorticoid deficiency...

A 34-year-old refugee from Somalia was referred because of a suspected DSD. Due to ambiguous, but predominantly female external genitalia at birth he was raised as a girl, whereas his subjective gender identity has always been male. Puberty led to a significant virilization of the body but only to a very limited virilization of the external genitalia. The patient presented himself with an undoubtedly male-type body composition. External genitalia were now predominantly male wi...

Introduction: The usual treatment for autonomously functioning benign thyroid nodules was surgery until the advent of new techniques such as radiofrequency ablation (RFA). This study aimed at estimating RFA efficacy of autonomously functioning benign thyroid nodules.Material and Methods: The analysis included the results of treatment of 108 patients with autonomously functioning benign tumors of the thyroid gland, received in the Samara Oncology Center. ...

Introduction: Amiodarone induced thyrotoxicosis (AIT) occurs in 5–10% of patients and may occur at any time throughout the course of treatment including months after discontinuation. Two distinct forms of AIT are distinguished and treated differently. Iodine-induced hyperthyroidism, typically seen in patients with underlying thyroid disease, is referred to as typ1 AIT and treated with high doses of thionamide antithyroid drugs and perchlorate. Type 2 AIT is a destructive ...

Familial hypocalciuric hypercalcaemia type-3 (FHH3) is caused by loss-of-function mutations of the sigma subunit of adaptor protein-2 (AP2), a ubiquitously expressed heterotetrameric protein with a fundamental role in endocytosis of transmembrane proteins. FHH3-associated AP2σ mutations impair internalisation of calcium-sensing receptor (CaSR) giving rise to FHH. CaSR predominantly signals via Gαq/11 leading to intracellular calcium release, and activation...

Men have a higher prevalence and risk of non-alcoholic fatty liver disease (NAFLD) than age-matched women and this may, in part, be related to differences in fatty acid oxidation. Fasting and postprandial fatty acid oxidation was investigated in 11 healthy men and 11 healthy women matched for age (46±2 years vs 46±2 years (mean±S.E.M.)), BMI (28.0±1 vs 27.0±1 kg/m2) and liver fat content (3.4±0.9 vs 3.9±0.7%) measure...

The recently published Endocrine Society Clinical Practice guideline on phaeochomocytoma and paraganglioma (PPGL) recommends measuring plasma metanephrines (PMets) with patients in the supine position after an overnight fast and using appropriately defined reference intervals.1 Studies have shown higher diagnostic sensitivities using the latter pretesting criteria.2 However, this testing protocol is resource intensive and arguably impractical in routine c...

Primary hyperaldosteronism (PHA) prevails in up to 20% of individuals with essential hypertension, but often presents a diagnostic challenge due to difficulty in interpreting the aldosterone renin ratio (ARR) largely due to anti-hypertensive medication interference. Interpretation of the ARR in the context of beta blockers presents a particular challenge and may produce false positive results due to renin suppression. We investigated the effects of beta blocker withdrawal on A...