Endocrine Abstracts

Introduction: The long-term mountain cycling effects on cognitive development for better performance, are still not fully elucidated. Notwithstanding, this type of exercise may induce a link with energy metabolism and sympathetic nervous system. We previously observed that a mountain cycling ultramarathon, induced a comodulatory influence of genetic- and exercise-associated factors on inflammatory and haemoglobin catabolic marker haptoglobin. We hypothesised that inflammatory ...

Introduction: The interaction between bone and energy metabolism may be enhanced in high demanding physical activities. We hypothesize that genetic background may modulate the exercise-associated bone and energy responses of athletes participating of a mountain cycling ultramarathon.Methods: Fifty-five non-professional athletes (mean age 44.8±7.1 years) participating in a 9-day mountain cycling ultramarathon (TransPortugal) were evaluated. Before an...

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: Acromegaly is a rare disease with significant morbidity and mortality. Surgical treatment is the first line treatment for these patients, with remission rates of >85% for microadenomas and 40–50% for macroadenomas.Objectives: Our objective was to characterize patients with acromegaly followed in our department and evaluate remission status after surgery. We also aimed to determine remission related factors.Me...

Introduction: Differentiated thyroid carcinoma is usually associated with a good prognosis. However, some of these tumors (5%) are radioiodine refractory and have different progression, associated with poor prognosis. In these situations, some tyrosine kinase inhibitors (TKI) can be used. We present a clinical case showing the difficulties in the follow-up and treatment of these patients.Clinical case: A 60 years old woman, with a “multicentric papi...

Introduction: Familial chylomicronemia syndrome (FCS) is a rare inherited disorder of lipoprotein metabolism leading to severe hypertriglyceridemia and increased risk for acute pancreatitis. Mutations in the lipoprotein lipase (LPL) gene account for the majority of cases of monogenic chylomicronemia.Methods: We report the cases of two white males with a novel homozygous mutation in position 332 of the LPL gene.Res...

Introduction: Therapy with hydroxychloroquine (HCQ) and chloroquine (CQ) constitutes a rare but documented cause of hypoglycemia in non-diabetic adults. The physiopathological mechanism is not fully understood, and symptoms may appear several years after starting treatment. In this paper, we describe the clinical presentation and investigation of a case of hypoglycemia attributed to HCQ therapy. Clinical Case: A 60-year-old female patient was referred fo...

Introduction: Adrenal myelolipomas are rare benign tumors. There has been an association of adrenal myelolipomas with other pathologies with hormonal hypersecretion, such as hypersecretion of adrenocortical hormone (ACTH) in Cushing’s Disease and Congenital adrenal hyperplasia. We report a case of acromegaly with co-existent large adrenal myelolipoma.Case Report: A 48-year-old caucasian male was referred to our Endocrinology consultation for an adre...

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: Intra-thyroid metastases are infrequent, comprising only 1-3% of all thyroid malignancies. Renal cell carcinoma, particularly of the clear cell type (CCRC), stands out as the predominant kidney malignancy and the most common primary source of intra-thyroid metastases, often manifesting several years post-diagnosis. This report highlights two cases of CCRC metastasis to the thyroid, both featuring deceptive cytological findings.Case 1: A 60-...