Endocrine Abstracts

Introduction: Polycystic ovary syndrome (PCOS) is a frequent cause of infertility. Its influence on the results of in vitro fertilization (IVF) is controversial, and generally not isolated from the effect of obesity. A relationship between the FSH receptor (FSHR) polymorphism Asn680Ser and the risk and phenotype of PCOS has been studied with conflicting results.Objectives: To analyze the influence of obesity and PCOS on the gonadal axis...

Introduction: The aging population brought new challenges in several diseases. Pituitary tumors are usually not related with elderly, although the rise in life expectancy has allowed its diagnosis in unusual age groups.Aim: To describe the pituitary tumors diagnosed in patients with age ≥ 80 yearsMethods: Retrospective observational study which included 23 patients with pituitary tumors with age ≥ 80 years observed in c...

Introduction: Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions. The most frequently found are Hashimoto’s thyroiditis, type 1 diabetes, coeliac disease, and inflammatory bowel disease. In patients with TS, Addison’s disease isolated or combined with other autoimmune disease as type 2 polyglandular autoimmune syndrome, is a rare finding.Case report: We report a case of a 41-year-old female patient, with severe ast...

Introduction: Monosomy 18q represents a partial deletion of the long arm of chromosome 18, with an estimated prevalence of 1:100 000. This syndrome is characterized by a highly variable phenotype. The symptoms and their severity depend on which part of the chromosome is missing. Most common manifestations are hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic fa...

Introduction: Current guidelines recommend a single prolactin sampling for the diagnosis of hyperprolactinaemia. Nonetheless, in some patients, prolactin levels may normalize in a subsequent sampling or if prolactin is collected through a venous catheter some time after puncture. We aimed to assess the percentage of patients in which prolactin remained elevated in repeated sampling and to determine the best prolactin cutoff associated with persistent hyperprolactinaemia.<p...

Introduction: Primary hyperparathyroidism is the most common cause for hypercalcemia. Familial benign hypocalciuric hypercalcemia (FBHH) is an unusual autosomal dominant disease. The mutation in the calcium sensing receptor (CaSR) determines a shift to the right in the calcemia set-point that inhibits PTH secretion. Generally asymptomatic, these patients present with mild hypercalcemia and hypophosphatemia, normal or slightly increased PTH levels and hypocalciuria. Daily calci...

Introduction: Insulinomas are the most common form of functioning pancreatic neuroendocrine tumors (NET) with an estimated incidence of 1–3/million per year. Less than 10% are malignant and rarely with distant metastases, carrying a poor prognosis.Case report: We report a case of a 73-years-old woman attended at our ER for recurrent syncope, with irrelevant medical history. Several radiology exams were preformed, revealing numerous liver metastases ...

Background: Pituitary apoplexy occurs when a tumor undergoes acute hemorrhage, infarct, or both. This often leads to acute severe symptoms (clinical) but can also occur without them and diagnosed on CT/MRI, surgery, pathology (subclinical). To investigate clinical and subclinical apoplexy in nonfunctioning tumors (n=221) from our database.Design: Retrospective review of clinical presentation, tumor characteristics and outcome of 24 patients, 11 fe...

Introduction: The association of autoimmune diseases in the same individual is common. It is well documented that Graves’ disease (GD) is associated to various autoimmune diseases, including: pernicious anemia, vitiligo, type 1 diabetes, Addison’s disease, systemic sclerosis, myasthenia gravis, Sjogren’s syndrome, rheumatoid arthritis and systemic lupus erythematosus. In addition, primary biliary cirrhosis (PBC) may be associated with rheumatoid arthritis, Sjogr...

Pituitary carcinoma is rare (0.1–0.2% of pituitary tumors), with a poor prognosis. It usually presents as invasive and secretory (ACTH or prolactin) macroadenoma. The diagnosis is confirmed by the presence of metastases. The latency period between the diagnosis of adenoma and carcinoma is variable (9.5 years for corticotrophinoma). The treatment includes surgery, radiotherapy and chemotherapy.We report a 58-year-old male, complaining of visual distu...