Endocrine Abstracts

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease. Mutations in various genes have been implicated in its pathophysiology, the most frequent being ANOS1, FGFR1 and GNRHR genes. FGFR1 is essential for cell proliferation, differentiation and migration during embryonic development and is involved in GnRH neuron development and maintenance. Klotho-beta protein (KLB) is expressed in the postnatal hypothalamus and is t...

Introduction: Milk-alkali syndrome is defined by the triad hypercalcemia, metabolic alkalosis and renal impairment, due to intake of calcium salts and absorbable alkali. It is the 3rd leading cause of hypercalcemia but often underdiagnosed. Patients with chronic hypoparathyroidism after total thyroidectomy have increased risk for this potentially life-threatening complication and its epidemiology is unclear. We present a case of milk-alkali syndrome in a patient with chronic h...

Introduction: Adrenal surgical series are scarce in the literature. We aim to present a single institution consecutive case series and to establish a radiologic-pathological correlation.Material and methods: A retrospective, observational and descriptive study was conducted by searching the Pathology database for surgically removed adrenal lesions. Cases were matched with the Imagiology database. Ultrasound, CT and MRI images were then reviewed by the sa...

Introduction: Klinefelter syndrome (KS) represents the most common cause of hypergonadotrophic hypogonadism, with an estimated prevalence of 1:500 to 1:1000 men. This syndrome is characterized by the presence of an additional X chromosome. Eighty percent present with a 47,XXY karyotype and the remaining 20% present with a 47,XXY/46,XY mosaic or with multiple X chromosome aneuploidies, often with additional Y chromosomes. The presence of a 47,XXY/46,XX mosaic with male phenotyp...

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...

Non-alcoholic steatohepatitis (NASH) is a clinical entity characterized by the infiltration of fat into the liver associated with hepatic inflammation. The etiology is unknown, however its most frequently observed in patients with type 2 diabetes mellitus (DM 2), obesity or insulin resistance. DM 2 is an independent risk factor for the progression of NASH. Usually there are no symptoms, so it is not possible to estimate its prevalence. The treatment focuses on the control of a...

Non-alcoholic steatohepatitis (NASH) is a clinical entity characterized by the infiltration of fat into the liver associated with hepatic inflammation. The etiology is unknown, however its most frequently observed in patients with type 2 diabetes mellitus (DM 2), obesity or insulin resistance. DM 2 is an independent risk factor for the progression of NASH. Usually there are no symptoms, so it is not possible to estimate its prevalence. The treatment focuses on the control of a...

Introduction: Multiple Endocrine Neoplasia type 1 is an underdiagnosed autosomal dominant disorder, with inter and intrafamilial variability without a genotype-phenotype correlation.Case report: A young female (born in 1986) presented with galactorrhea and secondary amenorrhea in 2002, and investigation revealed a prolactinoma. Her brother (born in 1982) presenting gynecomastia and erectile dysfunction at age 21, was also diagnosed with prolactinoma. The...

Introduction: Obesity as a pro-inflammatory state is associated to increased levels of C-reactive protein (CRP). CPR is considered as a cardiovascular (CV) risk independent marker and is being researched as a predictive atherosclerosis biomarker in obese children. The American Heart Association (AHA) recommends a three classes approach when aiming at CV risk stratification (low <1.0 mg/l; moderate 1.0–3.0 mg/l; and high >3.0 mg/l). These classes were extrapolated ...

Giant prolactinomas are uncommon, with some individual case reports described in the literature, but with few series documenting treatment outcomes. They represent a therapeutic challenge, since restoring normoprolactinemia, eugonadism and reducing tumour size may not be realistic goals. Specific complications may also arise during treatment that change the initial management plans. The authors describe a case of a 28-year-old male with visual impairment and behavioural change...