Endocrine Abstracts

Introduction: The BsmI restriction fragment polymorphism of the vitamin D receptor (VDR) has been related with the development of bone disease in postmenopause, homozygous β thalassemia and hyperthyroidism. The present study aimed to evaluate the association between bone metabolism in patients with epilepsy and the BsmI VDR’s polymorphism.Methods/design: This cross-sectional study evaluated 73 adult patients with epilepsy, under antiepileptic d...

Introduction: Gestational diabetes mellitus (GDM) is a common complication of pregnancy. Identification of early determinants of GDM is necesary to designate possible preventive strategies. The aim of this study was to reveal the most significant risk factors for GDM.Design: A total of 209 women with singleton pregnancies were included in the study. Maternal fasting glucose, anthropometric parameters and blood pressure were measured in the first trimeste...

Introduction: Aerobic (AER) and resistance (RES) exercise similarly improve HbA1c levels in type 2 diabetes subjects. However, it is still unknown whether exercise-induced acute changes in blood glucose differ according to exercise type. Our aim was to compare glucose level changes after a single bout of AER or RES exercise in trained diabetic subjects.Methods: Twenty-five subjects participating in the RAED2 Study, a RCT designed to compare the effects o...

Introduction: Hippocampus is a key area in the brain and influences the neuroendocrine functions, especially the hypothalamo–pituitary–adrenal (HPA) axis that is mainly regulated by corticotrophin-releasing hormone (CRH), vasopressin (ADH) and glucocorticoid (GC). This feed-back action is mediated by both glucocorticoid (GRs) and mineralocorticoid (MRs) receptors. GRs are distributed throughout the brain, but mostly in hypothalamic neurons, while the MRs highest expr...

Hypogonadism occurs in myotonic dystrophy (DM) type 1 and 2, a multisystemic autosomal dominant disorder. DM patients have genetically induced insulin-resistance (IR) and visceral obesity, providing a model to study the impact of metabolic disruptions on hypogonadism. We assessed hypothalamic-pituitary-gonadal function and metabolic features in 22 DM1 and 8 DM2 males (mean±S.D., 46±11years). Hypogonadism, defined as total testosterone (T)<320 ng/dl...

Despite the common clinical opinion that thyrotoxicosis is associated with quantitative and qualitative sleep alterations, at present, an objective evaluation of sleep quality and quantity in this clinical condition has never been performed so far. Based on this foregoing, in order to perform a qualitative and quantitative description of sleep in this clinical condition, we enrolled 6 normal-weighted patients suffering from naïve overt hyperthyroidism due to Basedow Disea...

Introduction: MEN1 is characterized by tumors of parathyroid glands, pituitary and pancreas. Pituitary tumors frequently produce PRL and GH, but acromegaly due to ectopic GHRH secretion has been reported in <1% of cases. Here we present a case of two patients belonging to a MEN1 family (c.207delC; p.P69PfsX118 mutation (ENST00000377313), affected by primary hyperparathyroidism, in association with acromegaly due to ectopic GHRH secretion and bronchial carcinoid, respective...

Thyrotropin-secreting pituitary adenomas (TSH-omas) account for less than 1% of all pituitary adenomas. Here we report retrospective data of 17 patients (seven M and 10 F) with TSH-oma followed at our centre from 1990 to present. Median follow-up time was 9.7 years. The mean age at diagnosis was 43±12 years. Radiological evaluation revealed macroadenomas in 11 of 17 patients (71.6%). Macroadenomas were extrasellar in 58.4% of cases, while only one microadenoma had extrase...

The role of CNVs in male infertility is poorly defined, and only those linked to the Y chromosome have been the object of extensive research. Although it has been predicted that the X chromosome is also enriched in spermatogenesis genes, no clinically relevant gene mutations have been identified so far. In order to advance our understanding of the role of X-linked genetic factors in male infertility, we applied high resolution X chromosome specific array-CGH in 199 men with di...

Introduction: Myotonic dystrophy (DM) type 1 and 2 are multisystemic autosomal dominant disorders with visceral obesity, insulin resistance and hypogonadism. The prevalence of metabolic risk factors for coronary artery disease (CAD) in DM is not well defined, particularly in patients affected by DM2, a milder and clinical challenging condition.Methods: We assessed the frequency of CAD risk factors in 31 male DM1 (44±11 years) and 13 male DM2 (54&#17...