Endocrine Abstracts

Introduction: Kallmann Syndrome (KS) consists of hypogonadotropic hypogonadism and anosmia, and is 5 fold more prevalent in males. There is a considerable clinical and genetic heterogeneity and a crescent interest in autosomal genes. The FGFR1 gene, located on the short arm of chromossome 8, encodes a glycoprotein fibroblast growth factor receptor and FGFR1 mutations has been identified in 10% of KS patients. The clinical picture include typical KS and associated features....

Introduction: Nesidioblastosis is a rare but well recognized disorder of persistent hyperinsulinemic hypoglycemia in infancy, but adult-onset nesidioblastosis associated with hyperinsulinemic hypoglycemia, termed noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) has also been reported. These patients experience predominantly postprandial hypoglycaemia instead of fasting hypoglycaemia that characterizes insulinoma. Histological findings are islet hypertrophy islet-cel...

Turner’s Syndrome is one of the most common chromosomal abnormalities found in 1 in 2500 live female births. Y chromosome material is detected in up to 6% of patients by karyotype, but with new technologies (DNA analysis), Y chrmosome sequences have been reported in 60% of patients. The presence of Y material has been associated with virilization and with the development of gonadal neoplasia.Aim: Determine the frequency of Y chromosome sequences in ...

BackgroundIn the 2002 outbreak of severe acute respiratory syndrome (SARS) a number of patients presented abnormalities in the thyroid functioning, neuroendocrine and calcium homeostasis. It was detected in autopsies from SARS Coronavirus (SARS-CoV) patients that the thyroid gland was significantly affected by the disease, with extensive injury and death of follicular and parafollicular cells. In the present SARS-CoV-2 pandemic some studies start to repo...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by hypercalcemia due to an unregulated overproduction of parathyroid hormone (PTH). PHPT is most commonly caused by a single adenoma of the parathyroid gland, usually located just behind the thyroid gland. However, in rare cases, they can have an ectopic location, including intrathyroid adenomas. In some cases, the measurement of intact PTH in the wash out fluid obtained by US-Fine Ne...

Introduction and objective: Prevalence of obesity is increasing in fertile women. We aimed to investigate its relation with pregnancy outcome.Methods: A retrospective analysis of 37 obese pregnant women (O group) was undertaken in the Endocrinology/Obstetric Unit, from 1998 to 2004. Control group included 33 pregnant women (C group) with normal body mass index (BMI).Results: Our O and C groups were age matched (O: 27.9±4.35; C...

IntroductionCOVID-19 is an emerging disease caused by the new coronavirus (SARS-CoV-2) that has overburdened healthcare worldwide. In Portugal, schedule appointments were cancelled, postponed or changed to tele-consultation. The objective of the study is to assess the impact of the pandemic on the use of Emergency Department (ED) by diabetic patients.Material and methodsRetrospective monocentric study of the ...

*These authors contributed equally to this workIntroductionThe prevalence of obesity has risen dramatically worldwide in the last three decades. Due to this obesity pandemic, a growing demand for weight-loss drugs has emerged. The increased use of these drugs has consequently lead to an increase in the report of adverse reactions.Case reportA 45-year-old woman with past medical history ...

Introduction: The 2019 European Society of Cardiology/European Atherosclerosis Society lipid guidelines changed the cardiovascular risk categories and LDL-C goals, and suggests that lipoprotein(a) [Lp(a)] measurement should be considered at least once in adult person’s lifetime. Although young people with type 1 diabetes (T1DM) without major cardiovascular risk factors (CVRF) were previously considered to be at low or moderate risk, they are at least at moderate risk bas...

Familial hypocalciuria hypercalcemia (FHH) is an autossomal dominant condition caused by mutations in the calcium sensing receptor gene. It is characterized by moderate hypercalcemia, with normal or slightly elevated PTH levels and hypocalciuria secondary to the increased calcium reabsorption at the distal tubule level.We present a case report of a 16 year old patient, who was referred to our department at the age of 14 because of obesity (BMI: 36.9 K/m<...