Endocrine Abstracts

Introduction: Neonatal diabetes mellitus is a rare form of diabetes, diagnosed within the first six months of life. We report a case of a 24-year-old patient with permanent neonatal diabetes.Case Report: The patient had no relevant family history. Her mother had no gestational diabetes. Personal history included: Normal birth weight, polycystic ovarian syndrome and ovarian teratomas. She was diagnosed of diabetes at 3 months of age, starting immediately ...

POEMS syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes is a rare disease that usually presents in the 6th decade. We report a case of a young male in whom the presenting manifestations were mandibular mass, adrenal insufficiency and peripheral polyneuropathy. Clinical case: A thirty-three year old man from Guinea-Bissau was admitted to our hospital with asthenia, weight loss, decreased tactile sensibility with pain ...

Estrogen-producing adrenal gland tumors (EPAGT) are extremely rare, accounting for only 1–2% of all adrenal tumors. They are most commonly observed in men or in children, and are unusual in women. They are almost always malignant even if they seem benign at presentation, and most of them have a poor prognosis. We present a case of a 71-year-old man with painful bilateral gynecomastia, without galactorrhea, over 4 months. Markedly elevated plasma estradiol levels were foun...

Although primary hyperparathyroidism (PHPT) is usually cured by surgery, some individuals are unable to undergo parathyroidectomy and are refractory to standard calcium lowering medical therapy. In such cases, targeted therapy with cinacalcet may be useful.The aim of this study was to access the short-term efficacy of cinacalcet in lowering calcium (Ca2+) levels in patients with PHPT unable to undergo parathyroidectomy and refractory to standa...

Background: Hypercalcaemia due to primary hyperparathyroidism is a rare cause of acute pancreatitis, with a reported prevalence of 1.5–8%.Clinical case: A 25-year-old male patient was referred to the Endocrinology outpatient clinic for hypercalcemia diagnosed in the context of acute pancreatitis. He had medical and surgical pathological antecedents of: clavicle fracture after car accident, cholecystectomy and appendectomy, gastroesophageal reflux di...

Introduction: MODY 5 is a rare type of dominantly inherited diabetes mellitus. It is asociated with mutations of the hepatocyte nuclear factor-1beta (HNF-1beta) gene. They are mostly missense mutations that produce truncated proteins with a variable clinical spectrum that encompasses among others: kidney, genital and pancreatic abnormalities.Case-report: A 35 years-old man without relevant medical history, presented with acute hypergycemia (541 mg/dl) an...

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: There is circumstantial evidence supporting a role of growth hormone and insulin-like growth factor 1 in the development and progression of tumors. Endosalpingiosis is characterized by the presence of non-neoplastic fallopion tube-like epithelium in ectopic anatomical locations.Case report: A 45-year-old woman presented with a constant moderate to intense perianal pain limiting basic daily life activities. She also complained about pain at ...

Introduction: Temozolomide (TMZ) treatment has been used for aggressive pituitary tumours with positive results, but has proven ineffective in controlling tumour regrowth in cases of disease recurrence. TMZ resistance has been linked to the expression of O6-methyl-guanine-DNA-methyltransferase (MGMT) protein and mismatch repair components (MMR). In the present study, we describe the development of an in vitro model of acquired resistance to TMZ and the mechanisms invo...

Introduction: Most thyroid nodules are benign. Some studies have shown largest nodule size, specially >4 cm, can predict malignancy and reduce fine needle aspiration (FNA) accuracy. Recent studies, however, have shown conflicting results as to whether nodule size may be used to distinguish at risk-lesions. We attempt to determine whether nodule size predicts thyroid malignancy and to examine accuracy of fine needle aspiration (FNA) by size.Material a...