Endocrine Abstracts

Introduction: Antithyroid drugs (ATDs) are generally safe and well tolerated, however, major side effects such as hepatotoxicity and agranulocytosis may occur and patients should be provided information on the major symptoms of these conditions. Although rare, agranulocytosis appears to be more likely with propylthiouracil (PTU) at any dose than with low-dose Methimazole (MMI). Clinical Case: We describe the case of a 70-year-old woman referred to Endocr...

Introduction: Ectopic ACTH production accounts for up to 20 percent of ACTH-dependent Cushing syndrome (CS). Small cell carcinoma and carcinoid of the lung represents half of its cases. These patients lack some of the more obvious clinical features of cortisol excess. Therefore, this can cause a delay in the diagnosis of CS and these patients may be at high risk of life-threatening complications such as infections or thrombosis.Clinical case: Case of a 7...

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...

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: 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×...

Introduction: Thyrotoxicosis after total thyroidectomy (TT) is mostly iatrogenic. Rarely, an hyperfunctional thyroid remnant or ectopic tissue may be the cause. We report a case of Graves’s disease in a mediastinal thyroid mass presenting 7 years after TT for nontoxic goitre.Case report: A 67-year-old woman presented with palpitations, fatigue and weight loss. She had a history of TT for nontoxic multinodular goitre at the age of 60 without any sign...

Introduction: Chronic somatotropin (ST) hypersecretion has systemic effects. It can cause important structural and functional cardiovascular (CV) changes, which can result in increased morbidity and mortality.Case report: A 48-year-old, male. followed by cardiology since 2005 for dilated cardiomyopathy (DCM) (Ecocardiography: moderately dilated left ventricle with globular appearance. Severely impaired global systolic function - LVEF 25%. Right cavities ...