Endocrine Abstracts

Background: Bilateral adrenal haemorrhage (Waterhouse–Friderichsen syndrome) is a rare consequence of sepsis (usually a result of meningococcal infection), with an estimated 15% mortality. Despite the predominant association with meningococcal infection, there are other recognised aetiologies: sepsis resulting from other organisms, and non-infectious causes, such as anticoagulant treatment, trauma and postoperative adrenal haemorrhage.Case report: A...

Introduction: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of disorders that have in common end-organ unresponsiveness to parathyroid hormone (PTH). The most frequent form, PHP type 1, results from different genetic/epigenetic changes in the GNAS gene.Case 1: Woman, 25 years-old, sent to Endocrinology from Genetics consultation after her daughter had been diagnosed with PHP type 1a (heterozygous pathogenic variant at exon 13 of...

Cushing’s Syndrome (CS) is an uncommon disease worldwide, being characterized by an increased production of glucocorticoids, and if left untreated can lead to serious consequences and women with CS rarely get pregnant. The aim of our work is to make a systematic review of the cases of pregnancy in patients with previously diagnosed CS, being performed an extensive research of the Medline and Web of Knowledge databases, and add three new cases observed in our institution. ...

Introduction: Amyloidosis results from deposition of insoluble proteins in the extracellular space. It can be both primary or secondary to chronic inflammatory diseases. Although microscopic thyroid involvement is common, cases in which it becomes clinically evident (amyloid goiter) are rare.Case report: Woman, 45 years. In 2009, she was diagnosed with Crohn’s disease after Bartholin’s gland abscess excision and evaluation for weight loss, anem...

Introduction: Hypovitaminosis D is a biochemical change with high prevalence among the population, especially in obese patients. Its function more known relates to bones metabolism, although recently, many functions have been described.Methods: A descriptive cross-sectional study, which included women over 18 years old with BMI equal or superior of 25 kg/m2. Anthropometric measurements were obtained: weight, height, BMI, waist circumference, h...

Background: Maturity onset diabetes of the young (MODY) has an estimated prevalence of 1–5% in the diabetic population, but misdiagnosis as type 1 or type 2 diabetes is common. It comprises a heterogeneous group of monogenic diseases characterized by primary dysfunction of β cell, young onset, autosomal dominant inheritance, without autoimmunity and without ketosis. Early diagnosis remains a challenge with important future implications, since it allows treatment opti...

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder. It can be sporadic or familiar and is divided into anosmic hypogonadotropic hypogonadism (Kallmann syndrome - KS) and congenital normosmic isolated hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism ‐ IHH). A growing number of genes are involved in its etiology, suggesting the heterogeneity and complexity of this condition.Cases Reports: Six cases...

Introduction: The association of hyperthyroidism and thyroid cancer (TC) is controversial with prevalences in the literature varying from 1.6 to 32.8%. The aim of this work was to evaluate the prevalence of TC in hyperthyroid patients submitted to surgery and to find differences between the tumors according to the type of hyperthyroidism.Material and methods: retrospective study to evaluate clinical and histopathological data of all hyperthyroid patients...

Introduction: DHEA and its sulfated form (DHEAS) are the most abundant steroid in humans, produced mainly by the adrenal cortex, converted to androgens and estrogens in peripheral tissues by tissue-specific steroidogenic enzymes. There are experimental evidences indicating DHEA anti-obesity, anti-inflammatory, and anti-oxidative effects in cell lines, animal models, and human.Aim: The aim of this study was analyse the protective effect of DHEA in the ske...

Introduction: LDL cholesterol (LDL-C) is a major risk factor for atherosclerosis. The Friedewald formula (FF) is limited by hypertriglyceridaemia. We aimed to correlate serum LDL-C measured by direct assay with serum LDL-C estimated by several formulas: Friedewald (FF): LDL-C=CT-HDL−TG/5; Tsai (TsaiF): LDL-C=TC-HDL−TG/8 (TG/8 represents very-LDL-C); DeLong (DeLongF): LDL-C=TC-HDL−TG×0.16 and Chen (ChenF): LDL-C=non-HDL-cholesterol×0.9−TG×...