Endocrine Abstracts

Introduction: Klinefelter syndrome (KS) is characterized by the presence of supernumerary X-chromosome and thus a 47,XXY karyotype. This syndrome remains underdiagnosed, with only about 25% of patients being identified, and only 10% during childhood.Methods: Retrospective analysis of 11 KS patients followed-up in the Endocrinology Department of Coimbra’s Hospital and Universitary Center. The registered data included education and occupation, time an...

Recent evidence shows that are modifiable risk factors and preventable, the most responsible for the high morbidity and mortality secondary to multiple chronic conditions (MCC), and smoking is one of the most important representatives. However, we still lack studies of populations with MCC and its association with smoking status.Objectives: To identify clinical and psychosocial characteristics according to the status of smoking among users with MCC, at h...

Introduction: Langerhan Cells Histiocytosis (LCH) is a rare heterogeneous idiopathic clinical entity involving clonal proliferation of Langerhan cells that may infiltrate most commonly bone, skin, lymph nodes or lungs. It affects mainly children between 5 and 15 years. The most common endocrine manifestation is diabetes insipida.Clinical case: The authors describe a case of a 19-year-old female patient, admitted in the Transition Follow-up of the Endocri...

Introduction: Diabetes mellitus (DM) is one of the main causes of end-stage renal disease (ESRD). Renal transplantation is the most effective form or renal replacement.Methods: Retrospective, descriptive study of a sample of 108 diabetic patients admitted as candidates to renal transplant from January 1991 to December 2011, using the SPSS programme, version 20.0.Results: 11 women and 97 men were evaluated (medium age: 58±8.2 y...

Background: Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare congenital disorder characterized by any combination of optic nerve hypoplasia, pituitary dysfunction and midline abnormalities of the brain. Clinical diagnosis requires the presence of at least two of the features. This disorder is equally prevalent in males and females, with a reported incidence of 1/10,000 live births. There is wide variation in the severity of the clinical features found....

Introduction: Activating and inactivating mutations of the GNAS gene (encoding the Gsα protein) cause McCune–Albright Syndrome and Albright’s Hereditary Osteodystrophy, respectively. In both, the bone and the endocrine system are often affected. In McCune–Albright Syndrome the most common endocrine manifestation is precocious puberty, but thyroid lesions and hormonal overproduction are also described. In Albright’s Hereditary Osteodystrophy there m...

Introduction: Multiple endocrine neoplasia (MEN) is a rare genetic syndrome characterized by occurrence of tumors involving two or more endocrine glands. Four types are described: MEN1, MEN2, MEN3 and the recently identi&#-1279;ed MEN4. Due to the complexity of the syndromes, it is difficult to manage these patients. Our objective was to describe the clinical features of individuals from 7 families with a diagnosis of MEN1 or MEN2 and identify current challenges in clinical pr...

Background: Therapy with levothyroxine (L-T4) is essential in hypothyroidism treatment. The marked elevation of thyrotropin (TSH) in patients treated with appropriate doses of L-T4 is rare and can result from malabsorption, drug interaction or poor adherence. The non-adherence, omitted by the patient, is called pseudo malabsorption.Clinical report: ACCS, female, 30 years old, hospitalized for persistent...

Introduction: People with intracranial organic lesions, including pituitary tumours, may manifest initially as a psychiatric disorder, such as depression, emotional disturbance, anxiety, apathy, neurobehavioral disturbance, cognitive dysfunction and personality disturbance.Case Report: A male patient 45 years old was sent to the Department of Endocrinology of São João Hospital due to a pituitary macroadenoma. The patient referred asthenia, musc...

Differentiated carcinoma of the thyroid (DCT) of follicular origin is the most frequent endocrine neoplasia and it usually has a good prognosis even in the disseminated disease, due to its slow growing pattern and low dissemination rate. The prevalence of metastasis described in the literature varies between 5 and more than 20%.Aims: To analyze the clinical–pathological data and their relation with survival of patients (pts) with metastatic DTC....