Endocrine Abstracts

We report an 18-year-old boy referred to our outpatient clinic at 8 years and 11 months of age with a history of early-onset childhood hiperphagia, infantile central hipotonia and lethargy, mild mental retardation and emotional instability. His height was 125 cm, height SDS = -1 (target height = 169,5 cm, SDS = -0,78) and he weighted 40 Kg (BMI = 25,6;WFH =164%). He had small hands and feet, fat face with prominent forehead, bitemporal narrowing, triangular upper lip, microgna...

IntroductionThe Indoleamine 2.3-dioxygenase (IDO) is an enzyme involved in tryptophan metabolism, encoded by the IDO1 gene in humans. In Caucasians, the rs9657182 polymorphism of IDO gene was found to be associated with neurobehavioral complications, especially depression. Several studies in Type 2 Diabetes Mellitus (T2DM) describe psychological factors as barriers to the successful implementation of a healthy eating plan. According to our knowledge ther...

IntroductionThe measurement of serum thyroglobulin (Tg), a glycoprotein produced exclusively by follicular thyroid cells, is an important tumour marker used in the follow-up of patients with differentiated thyroid carcinoma (DTC) and residual or recurrent disease. However, its role as a screening tool before thyroid surgery is not yet defined, as benign conditions can result in its increase.ObjectiveThe aim o...

Background: Agranulocytosis is rare and may develop in 0.2–0.5% patients using antithyroid drug therapy (ATD). We report on a patient who developed febrile neutropenia two weeks after starting treatment with methimazole.Case Report: A 74-year-old female, with no relevant medical history, was diagnosed with Graves disease and treated with methimazole (30 mg/day). Three weeks after starting therapy she presented to the emergency department with compla...

Thyroid hormones (TH) are responsible for maintaining metabolism. Its concentrations are fundamental during pregnancy and the first days of life, and its imbalance can generate early and late repercussions for the newborn.Objectives: This study evaluates the relationship between maternal thyroid disease history impact on newborns and infants admitted to the semi-intensive care unit.Materials and methods: Data were collected from a ...

Introduction: Bardet-Biedl Syndrome is a rare autosomal recessive disease characterized by defects in multiple organ systems, presenting with diverse clinical manifestations such as retinopathy, polydactyly, obesity, intellectual developmental disorders, hypogonadism, renal dysfunction, among others.Clinical Case 1: 49-years-old female, case index, followed multidisciplinary since the age of three due to progressive night blindness from generalized retin...

Introduction: Neuroendocrine Tumors of the Colon are often aggressive and metastatic at diagnosis. The diagnosis is histologicaly obtained through immunohistochemical evaluation of biopsy specimens/metastases, with positive staining for Chromogranin A and Synaptophysin.Case Report: A 54-year-old independent patient with Type 1 Diabetes, leading to diabetic nephropathy, underwent a renal transplant followed by graft failure and is currently on hemodialysi...

Introduction: Grave’s disease is a rare disease in children. Treatment options are the same as in adults but remission rate with antithyroid drugs (ATD) appears to be lower in children and more prolonged courses of ATD are recommended. We aimed to evaluate the outcome of ATD treatment and to identify factors associated with remission.Methods: Retrospective study of 36 pediatric patients diagnosed with Grave’s disease at the Pediatric Department...

Introduction: Monogenic forms of diabetes that develop with autosomal dominant inheritance are classically aggregated in the maturity-onset diabetes of the young (MODY) categories. Despite increasing awareness, its true prevalence remains largely underestimated.Aim: o evaluate the clinical and molecular characteristics of patients with MODY.Methodology: This single-center retrospective cohort study enrolled patients with positive g...

Introduction: Effects of prior exposure to testosterone (T) during puberty on the performance of transgender women (TW) in estrogen therapy undergoing physical effort are not known, mainly about cardiopulmonary capacity (CPC). Objectives: To evaluate CPC and muscle strength in TW undergoing long-term gender-affirming hormone therapy (GAHT). Methods: A cross-sectional study was carried out with 15 TW (34.2±5.2 yo), 13 cisgender men (CM) and 14 cisgender women (CW). TW were i...