Endocrine Abstracts

Background: Adolescent girls with type 1 diabetes (T1DM) have a higher incidence of metabolic risk factors like hypertension, dyslipidemia, non-alcoholic hepatic steatosis (NASH), abdominal adiposity and polycystic ovarian syndrome (PCOS) when compared with their non-diabetic peers. Moreover, metabolic risk factors seem to appear even in T1DM girls without overweight or obesity. We aimed to determine the prevalence of several metabolic risk factors in adolescent T1DM females, ...

Introduction: In chronic diseases a good psychological and behavioral adaptation is essential. Concerning diabetes the Insulin Delivery System (IDS) adopted tend to be an important factor of adaptation, global satisfaction and, above all, quality of life (QoL).Objectives: To analyze the QoL and IDS satisfaction and its relationship with psychopathological symptomatology in patients on continuous subcutaneous insulin infusion (CSII) therapy.<p class="...

Introduction: Turner syndrome is one of the most common human chromosomopathy and represents an important cause of short stature and ovarian insufficiency. It is caused by total or partial loss of X-chromosome and its prevalence is about 1 in 2000–2500 live female births.Objectives: To review the patients with TS followed in a Paediatric Endocrinology Unit since 1999.Methods: A retrospective study regarding diagnosis, course, ...

Introduction: Multisystem Langerhans cell histiocytosis (LCH) is a rare heterogeneous disorder caused by accumulation in multiple organs of dendritic cells phenotypically similar to cutaneous Langerhans cells. Pituitary involvement is present in about 25% of cases, and central diabetes insipidus is the most common deficit in that setting. Panhypopituitarism is rare, but hypothalamic-pituitary dysfunction is amongst the most frequent long-term complications of the disease.<...

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 endocrine system is often affected in the course of HIV infection. However, hypopituitarism and diabetes insipidus are uncommon disorders in these patients and have been related to drugs, infections of the central nervous system and neoplastic infiltration, in extremely rare cases.Case report: We present a case of a 42-year-old man with HIV infection known since 2005, but undergoing antiretroviral therapy only since 2010 (emtricitabine/...

Introduction: Thyroid storm is a rare medical emergency with high mortality, which usually results from acute exacerbation of hyperthyroidism. Amiodarone is a highly used class III antiarrhythmic drug and amiodarone-induced thyrotoxicosis is an infrequent effect of this medication, whose treatment may be difficult.Case study: A 20-year old male with congenital cardiomyopathy (Fallot tetralogy and Ebstein anomaly), chronically medicated with amiodarone 20...

Introduction: Bilateral macronodular adrenal hyperplasia ACTH-independent (BMAH) represents less than 1% of the causes of Cushing’s syndrome (CS). Studies have shown that mutations in the gene ARMC5 are a common cause of family BMAH and are associated with severe clinical disease and the development of meningiomas.Case report: 64-years-old man presented to our consult due to bilateral macronodular adrenal hyperplasia. He had diabetes mellitus, arter...

Stiff person syndrome (SPS) is a rare disease characterized by progressive muscle rigidity and spasms, which can lead to functional disability. This condition can be challenging to diagnose if there is no high index of suspicion. Its etiology is unknown, but one of the most likely causes is autoimmune aggression, which is corroborated by that fact that it is associated with other autoimmune diseases in half of the cases described in literature.We will pr...

Background: Continuous subcutaneous insulin infusion (CSII), alongside multiple daily injections (MDI) are the most frequent therapeutic of type 1 Diabetes Mellitus (DM). We aimed to evaluate the effects of the transition from MDI to CSII in the treatment of type 1 DM.Patients and methods: This retrospective longitudinal study analysed patients that received treatment with CSII from 2006 to 2014. Our sample had 85 patients, 35 male (41.2%) and 50 female ...