Endocrine Abstracts

Introduction:: Gender dysphoria (GD) is featured by significant difference between the individual’s expressed gender and the gender others would assign him or her, with marked distress in social and occupational functionality, according to DSM-V classification. We report the experience in the clinical evaluation and the results of hormonal therapy and sex reassignment surgery in a hospital center.Methods:: It was conducted a retrospective analysis o...

Introduction: Pheochromocytomas are adrenomedullary catecholamine-secreting tumors. These account for <0.1% of all causes of hypertension and may be related to potentially fatal hypertensive crises. Can appear as sporadic tumors or associated with familial syndromes.Malignancy occurs in 15–20% of the cases and is characterized by local invasion or distant metastasis rather than capsular invasion. Tumor recurrence has been reported with a frequen...

Introduction: Diabetic nephropathy is the main global cause of end stage renal disease. According to the annual report from the Portuguese National Diabetes Observatory, in 2013, the prevalence of diabetes mellitus (DM) in new cases of chronic kidney disease was 31.2 and 11.1% in kidney transplant patients.Aim: To characterise the population of type 2 diabetic patients admitted in diabetes and kidney transplant consult (DKTC), comparing those admitted be...

Introduction: Diabetes mellitus is a common metabolic complication after kidney transplantation, occurring with a frequency of 15–30% in the first year. However, despite the high incidence, there are described few cases of diabetic nephropathy with nodular glomerulosclerosis of the allograft.Case: Female patient, 49, with autosomal dominant familial renal poliquistose diagnosed at 17 and progression for chronic end-stage renal disease, underwent ren...

Introduction: Adrenocortical carcinoma (ACC) is a rare and aggressive tumor, with a poor prognosis and median survival of 3–4 years. Complete surgical resection is the only possibility of cure. The rate of post-surgical recurrence is high, so adjuvant treatment with mitotane plays a key role.Objectives: To evaluate predictive factors of response to adjuvant treatment with mitotane in monotherapy in patients that underwent surgical resection of ACC....

Introduction: Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease (1:4 million) characterized by a fatal premature aging. There are 162 cases worldwide, five of them in Portugal. It is caused by a sporadic autosomal dominant mutation in LMNA gene that encodes an abnormal variant of the laminin-A protein, named progerin. Although most babies born looking healthy, they begin to display some characteristics of Progeria around 18–24 months of life. The ear...

Introduction: Addison Disease is a rare condition with an estimated incidence in the developed world of 0.8 cases per 100 000 population. It is associated with relevant morbidity and mortality rates, but once the diagnosis is made it can be easily managed. When Addison Disease is associated with other autoimmune diseases, the diagnosis of polyglandular autoimmune syndrome can be set. The recognition of symptoms and signs can be challenging and clinicians should be aware of aty...

Introduction: Tyrosine kinase inhibitors (TKI) demonstrated clinically significant activity in radio iodine (RAI)-refractory differentiated thyroid cancer (DTC) and in locally recurrent, unresectable and metastatic medullary thyroid cancer (MTC). The natural history of MTC and DCT is quite variable with rates of disease progression ranging from a few months to many years. TKI can be associated with progression-free survival, but is not curative and the side effects may have a ...

IntroductionThyroid dysfunction is the most common endocrine disorder in women of childbearing age, and is associated with menstrual irregularities, anovulation and infertility. Whether it is thyroid function and/or thyroid autoimmunity (AI) that affects functional ovarian reserve remains to be clarified.AimTo evaluate the association between functional ovarian reserve and thyroid AI in women with infertility...

Multiple endocrine neoplasia type 1(MEN1) is a hereditary condition caused by mutations in the MEN1 gene, which encodes menin protein. The syndrome predisposes to the development of tumors in both endocrine and non-endocrine systems. In patients with MEN1, pituitary adenomas (PA) occur in approximately 40% of all cases. If patient has MEN1 phenotype with no mutations in MEN1 gene, the condition is regarded as a phenocopy. The reason of several endocrine MEN1-...