Endocrine Abstracts

Introduction: Hemangioblastomas (HBL) in the pituitary stalk are extremely rare. Most pituitary stalk HBL reported in the literature were associated with von Hippel–Lindau (VHL) disease.Case report: We report the case of a 34-year-old female patient with VHL disease diagnosed at the age of 18 with multiple complications (bilateral retinal and cerebellum HBL, renal cell carcinoma). Brain magnetic resonance imaging (MRI) demonstrated an hypointense su...

Introduction: CHARGE Syndrome (CS) is a rare cause of hypogonadotropic hypogonadism (HH), usually diagnosed in paediatric age when pubertal development is compromised. Herein, we report a case that presented a major criterion and three minor criteria.Case report: At age ten, the patient was referred to the paediatric endocrinology unit due to phenotypic alterations and psychomotor and cognitive impairment. She had no family history of consanguinity, inhe...

Objective: The recommendations for action in a Bethesda category III are to repeat the cytology or to perform molecular tests, and if these are inconclusive, surveillance or surgical indication may be maintained, depending on the risk factors, ultrasound characteristics of the nodule and patient preference. In case of category IV of Bethesda, the recommendation is the surgery. The objective of this study was to evaluate the impact of age, gender and nodule size on the incidenc...

Objective: Thyroid cancer is the most common of the endocrine tumors, with papillary being the most frequent. There is no consensus about prophylactic central cervical dissection in patients with papillary carcinoma of the thyroid. The aim of this study is to analyze surgical complications and the rate of recurrence of papillary carcinoma in patients undergoing total thyroidectomy and prophylactic central cervical dissection, and patients submitted to total thyroidectomy alone...

Introduction: Ogilvie’s syndrome (acute colonic pseudo-obstruction) is a syndrome in which the clinical features resemble those of mechanical obstruction with massive colonic dilatation, in the absence of any demonstrable evidence of such an obstruction in the intestine. The exact pathophysiology of intestinal pseudo-obstruction remains to be elucidated. Current theories continue to suggest the idea of an imbalance in the autonomic nervous system. The initial therapy rema...

Objective: To investigate whether a supervised structured exercise program by 16 weeks improves metabolic, pulmonary and cardiovascular parameters in obese adolescents.Material and methods: We included 38 obese adolescents between 12–15 years old. They participated in a supervised exercise program by 90 minutes, 5 days a week during 16 weeks. At baseline and at the end of the exercise program, we evaluated cardiorespiratory fitness, anthropometric m...

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 ...

Objectives: To study the association of functional polymorphisms at DHFR, CBS and MTHFR genes with bone mineral density (BMD) and metabolic parameters of bone remodeling.Materials and methods: BMD (g/cm2) was measured by DEXA in 391 subjects: 174 with normal BMD (137F 37M; age=48.79±12.99 years; BMI=29.61±5.22 kg/m2), 62 with osteopenia (48F 14M; age=56.06±12.96 years; BMI=27.64±4.94 kg/m2) and 154 with osteoporosis (119F, 35M; age=64...

Introduction: This study presents four clinical cases of lipodystrophies, which are a group of rare and heterogeneous diseases characterized by the decrease or lack of adipose tissue (AT) accompanied by metabolic complications.Clinical cases: 1) 59-year-old woman with partial familial lipodystrophy, type 7 (OMIM #606721): Diagnosis of suspected type 1 diabetes (DM) at 28 (treated with insulin with poor control), class 1 obesity and hypertriglyceridemia. ...

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...