Endocrine Abstracts

Introduction: Von Hippel-Lindau disease (VHLD) is a rare autosomal-dominant syndrome, characterized by the development of multiple cysts and tumours, namely retinal and central nervous system hemangioblastomas, renal cell carcinoma (RCC), phaeochromocytoma, pancreatic endocrine tumours (PET) and endolymphatic sac tumours.Most germinal mutations are missense, related to a high risk for presenting phaechromocytoma (specially if Arg167Trp mutation im...

Introduction: Traumatic brain injury (TBI) is considered a rare cause of pituitary dysfunction. Recently, some retrospective studies demonstrated that TBI-mediated hypopituitarism is more frequent than previously known. However, its prevalence and natural history are still unclear.Objectives: To evaluate the prevalence of hypopituitarism 1 year after TBI and the association between the seriousness of the traumatism and the pituitary deficits.<p class...

Introduction: High-resolution US and US FNA are techniques of great relevance in the evaluation of thyroid nodules. They are being used much more often by endocrinologists all over the world. In our Endocrinology Department, we started them in 2006; since then they have been progressively amplified. We present our results of US FNA performed from January 2007 until December 2009.Patients and methods: Two thousand eight hundred and seventy-seven FNA were ...

Introduction: The stromal luteoma of the ovary is a rare tumour occurring mostly in post menopausal women. Endocrine symptoms and sometimes virilizing signs may be observed, although abnormal vaginal bleeding is the most frequent manifestation. This tumour is surrounded by ovarian stroma being entirely composed of luteinized cells devoid of crystals of Reinke. Hyperthecosis of ovarian stroma is often observed. Its evolution is always benign.Case report: ...

Introduction: Diabetes is a major risk factor for chronic kidney disease (CKD). Previous studies have shown contradictory results regarding the effect of prediabetes in the development of CKD.Methods: We performed a secondary analysis of the SPRINT trial (Systolic Blood Pressure Intervention Trial) involving 9361 patients without diabetes and with an increased cardiovascular risk (clinical or subclinical cardiovascular disease, estimated glomerular filtr...

Obesity is growing fast worldwide. Although environmental factors play a major role, endocrine dysfunction may contribute to the weight gain. We report an invasive macroprolactinoma diagnosed in obesity setting. A 35-year-old male was referred to our endocrine outpatient department due to grade 2 obesity (IMC 38.4 Kg/m2). His weight was increasing since the beginning of his professional activity at the age of 20 due to a sedentary lifestyle. On physical examination he had an h...

IntroductionIn Klinefelter syndrome, hypergonadotropic hypogonadism is the most prominent endocrine-metabolic disorder. However, a higher prevalence of cardiovascular risk factors has also been reported.ObjectivesIn a sample of individuals with Klinefelter Syndrome (KS): – to document the diagnostic context; – to assess the prevalence of cardiovascular risk factors (CVRF) and compare it with a contr...

IntroductionNoonan syndrome can result from different mutations, the most frequent being in PTPN11. The diagnosis is often made by the clinical picture of short stature, facial dysmorphisms and heart defects. From an endocrine point of view, growth retardation, hypogonadism and a higher frequency of thyroid autoimmunity are highlighted.ObjectivesTo analyse endocrine features in patients with Noonan syndrome (...

Introduction: Women with gestational diabetes (GD) have an increased risk of developing future type 2 diabetes mellitus (T2DM). A reclassification oral glucose tolerance test (OGTT) is currently recomended in the postpartum period. However, most studies report a compliance rate below 50% and as low as 23%.Objectives: We aimed to study predictors of missing postpartum OGTT in women with GD.Materials and Methods: Retrospecti...

Introduction: The American Diabetes Association proposed two subcategories for type 1 diabetes: autoimmune type 1 diabetes (ADM) and idiopathic type 1 diabetes (IDM). The absence of β-cell autoimmune markers and lack of association with HLA haplotypes define the second category, whose pathogenesis remains unclear. Only a minority of patients with type 1 diabetes fall into this subcategory which is considered by several authors similar to type 2 diabetes.<p class="abst...