Endocrine Abstracts

Primary amenorrhea is characterized by the absence of menstruation after the age of 14 without the development of secondary sexual characteristics or after the age of 16 with the development of these. Hypogonadotropic hypogonadism (HH) corresponds to an uncommon etiology of primary amenorrhea. In HH, the differential diagnosis includes Kallmann Syndrome, isolated hypogonadotropic hypogonadism and CHARGE Syndrome. The CHARGE syndrome corresponds to an extremely rare syndrome, w...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is associated with an increased cardiometabolic risk in adult life. Nevertheless, data regarding pediatric age is scarce. We aimed to evaluate cardiometabolic risk factors in patients with CAH due to 21-hydroxylase deficiency in pediatric age.Methods: We reviewed the clinical records of patients with CAH evaluated in a Pediatric Endocrinology Unit in a central hospital. Pat...

Introduction: Recent studies seem to support a bidirectional positive interaction between aldosterone and parathyroid hormone (PTH). Understanding the normal physiological relationship between renin-angiotensin-aldosterone system (RAAS) and PTH is of clinical interest because their inappropriate activity may negatively impact cardiovascular and skeletal health.Objective: To evaluate the presence of an interaction between aldosterone and PTH in a cohort o...

Introduction: Vitamin D is a hormone that acts through the Vitamin D receptor (VDR) not only on the skeletal system but on a great number of target tissues, including thyroid gland. In recent years the association of vitamin D with autoimmune thyroid diseases (AITD), has been suggested.VDR gene polymorphisms had been associated with an increased risk of AITD. In addition a recent meta-analysis showed that AITD patients had lower level of 25-hydroxyvitami...

Introduction: First described in 2009, IgG4-related thyroid disease includes several subcategories: Riedel’s thyroiditis, fibrous variant of Hashimoto thyroiditis (FVHT), IgG4-related Hashimoto thyroiditis (HT) and Graves’ disease with elevated IgG4. It is rare, with most cases described in Japan and characterized by increased IgG4 plasma cells at immunostaining.Case Report: A 59-year-old Caucasian women, without known Asian ancestry, was obser...

Introduction: Fine needle aspiration cytology (FNA) is the most accurate diagnostic method for thyroid malignant nodule diagnosis. According to the literature, the percentage of false negative results (FN-FNA) is less than 1.5%, in tertiary health care centers.In this study we describe the cases reported in this Hospital, between 2014 and 2016, of benign cytology, histologically characterized as malignant. All pathologic specimens were reviewed.<p cl...

Introduction: Autoimmune Addison disease requires lifelong glucocorticoid and mineralocorticoid replacement. Optimal therapy is not standardized and must balance adequate hormone substitution with prevention of treatment-related complications.Objective: Assessment of patients followed at our department: epidemiology, associated conditions, treatment, cumulative hydrocortisone dose and comorbidities.Methods: Review of clinical recor...

Objective: To retrospectively evaluate the results of the pheochromocytoma surgery in our institution assessing the surgical complications, perioperative hemodynamic instability and oncologic outcomes.Methods: The medical records of patients admitted for pathologically confirmed pheochromocytoma between 2000 and 2015 were reviewed. Patients with paragangliomas were excluded.Results: We identified 40 patients with 43 resected pheoch...

Introduction: Hypopituitarism is a clinical syndrome of deficiency in growth hormone (GHD) production, which can occur isolated or associated with others pituitary defects. GHD has an incidence of 1:4000 to 1:10 000. It may be idiopathic, congenital or acquired.Purpose: Characterize the paediatric population with GHD followed at the Paediatric Endocrinology Unit of our centre and compare the clinical presentation and treatment response of the patients wi...

Introduction: The prevalence of pituitary thyrotropin secreting tumors (TSH-omas) is 1-2 cases per million inhabitants, most of them being macroadenomas. The differential diagnosis may be challenging, especially for microadenomas.Case Report: A 50-year-old male was observed at the endocrinology department with multinodular goiter. He noticed progressive neck enlargement over the previous months but denied other complaints. There was no family history of ...