Endocrine Abstracts

A 26-year-old man presented with a 3-month history of polydipsia, polyuria and nocturia. Physical examination was unremarkable. Random blood glucose was 5.1 mmol/l, sodium 147 mmol/l, serum osmolality 297 mOsm/kg, urine osmolality 81 mOsm/kg. A water deprivation test confirmed cranial diabetes insipidus. Magnetic resonance imaging (MRI) of his pituitary gland revealed nodular thickening of the pituitary stalk suggestive of inflammatory or neoplastic aetiology. He also complain...

Introduction: Despite being on adequate amounts of levothyroxine (>1.6 μg/kg) some patients still exhibit biochemical evidence of inadequate replacement (serum TSH >4.2 mIU/l±free-thyroxine (FT4) <12 pmol/l). We report the use of a 5-day absorption test for assessing levothyroxine absorption in such a patient.Case: A 35-year-old female with hypothyroidism since 2007 had a serum TSH ranging from 4.48 to 54.9 mIU/l and FT<s...

Obesity is a polymorphic chronic disease with epidemic prevalence. Furthermore, heritability of the weight phenotype is high. However, within the catabolic leptin–melanocortin signalling pathway, which is pivotal for body weight regulation, gene mutations are rare. This indicates that other, non-genetic heritable factors might play a role in the development of obesity, such as epigenetic mechanisms.In a candidate gene approach, we analyzed the funct...

Introduction: Weight loss is a key initial treatment strategy in obese women with polycistic ovary syndrome (PCOS) and improves insulin sensitivity and metabolic risk factors. In some women with PCOS it may reduce hyperandrogenism and restore menstrual function, ovulation and fertility. The aim of this study was to reveal clinical predictors of menstrual response to weight loss in overweight women with PCOS.Design: overweight unovulatory women with PCOS ...

TTF1/NKX2.1 is a transcription factor expressed in thyroid, lung and brain. Several heterozygous mutations have been described in patients with primary congenital hypothyroidism, respiratory distress and benign hereditary chorea, typical aspects of the ‘thyroid–lung–brain syndrome’.We recently studied a family affected by some of these features, and the direct sequencing of the NKX2.1 gene demonstrated an heterozygous deletion of a cy...

Introduction: We present a case of probable cyclical Cushing’s syndrome (CS) masquerading as polycystic ovarian syndrome (PCOS) which went undetected for almost a decade. Our case highlights the subtleties and complexities of interpreting diagnostic tests in patients with cyclical endogenous hypercorticolism.Case: A 33-year old female with presumed PCOS presented with a seven year history of persistent hirsutism and acne. However there was no menstr...

The adrenal function of children is investigated similarly to adults’ using at rest (basal) and after testing serum cortisol concentration ((F)). di Iorgi et al. (JCEM 95:2132) showed a good diagnostic accuracy of glucagon testing investigating (F) increase. We retrospectively addressed the relevance of using, in children with short stature tested for GH deficiency, 1/ the normal reference range of our assay for basal (F) and 2/ the threshold provided by di Iorgi et al. o...

Introduction: Osteoporosis is a major cause of morbidity in β thalassaemia major patients. Our institution serves one of UK’s largest populations of thalassaemia patients. This study aimed to examine the prevalence of osteopenia and osteoporosis in thalassaemia major patients and identify risk factors for low bone mineral density (BMD).Methods: BMD of lumbar spine and neck of femur were measured using dual-emission X-ray absorptiometry (DEXA). ...

Introduction: G protein coupled receptor dimerization is proposed to have great impact on receptor signaling. Allosteric communication between the protomers of a dimer can alter ligand binding, receptor conformation and the interactions with different effector proteins. Although the concept of intradimeric interactions is widely accepted, the molecular mechanism behind them is not clearly understood. In this study we investigated the allosteric interactions within the type I a...

Histiocytosis is a group of syndromes /synonyms: eosinophilicgranulomatosis, pulmonary Langerhans cell histiocytosis, fibrous lung disease, disease of smokers, non-lipid reticuloendotheliosis; disease of Hand–Schuller–Christian; disease of Letterer–Siwe/. It is a rare disease and its real frequency is unknown. In a reference center in the U.S. the disease is found in 5% in patients with lung biopsy carried out in connection with the diagnosis of interstitial lun...