Endocrine Abstracts

Graves’ disease (GD) is a heterogeneous autoimmune disorder affecting, with varying degrees of severity, the thyroid, eyes and skin. GD is the most common cause of hyperthyroidism. The incidence peaks between 30 and 50 years of age, but people may be affected at any age. Hyperthyroidism is caused by autoantibodies stimulating the TSH receptor on thyroid cells. The severity of thyrotoxicosis in GD is variable and the response to anti-thyroid drugs is difficult to predict. ...

Introduction: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare disease inherited in an autosomal dominant pattern, caused by mutations in the MEN1 gene. The cardinal components of this syndrome are: primary hyperparathyroidism (PHPT), gastroenteropancreatic neuroendocrine tumors (NETs) and pituitary tumors.Aim: The aim of the study was to evaluate clinical features of MEN1 patients under care of two teritiary centers in Warsaw, Poland with special fo...

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare, autosomal dominant disease characterized by the coexistence of at least two of the following: primary hyperparathyroidism (PHPT), neuroendocrine tumors (NET) and pituitary tumors. The aim of the study was to evaluate epidemiology, clinical features and management of MEN1 patients in two referral centers in Warsaw, Poland.Material and Methods: Study group consisted of 52 patients, aged from...

Background: The genetic predisposition of Graves’ disease (GD) was proved by the identification of genes with substantial, non-interactive effects on the disease process. It is known, however, that genetic interactions significantly increase the likelihood of immune-tolerance-related complex diseases like allergic asthma and rheumatoid arthritis. In the present study we analyzed the effects of interactions of multiple loci on the genetic predisposition to GD patients....

Background: Classical congenital adrenal hyperplasia (CAH) is diagnosed mainly in newborns. While patients with salt wasting form cannot survive without timely diagnosis, those with simple virilizing or nonclassical may be diagnosed even in advanced age.Aim: To present clinical, biochemical, radiological and genetic characteristics of series of CAH patients diagnosed in advanced adulthood.Material and methods: Eight patients (F=5, ...

Backgroud: ACTH stimulation test is considered the basic diagnostic tool in the diagnosis of nonclassical congenital adrenal hyperplasia due to 21 hydroxylase deficiency (CAH). The cut off of 17OHP stimulation recommended for diagnosis is 10 ng/ml.Aim: To assess whether the recommended threshold of 17OHP after ACTH stimulation confirms nonclassical CAH among woman with hyperandrogenism and elevated basal 17OHP level.Material and Me...

Introduction: Low dose dexamethasone (DEX) androgen suppression test (LDDAST) is considered a tool to distinguish between the sources of androgen excess and to exclude/confirm autonomy of androgen overproduction.Aim: To assess whether 1 mg DST can be used instead of LDDAST.Materials and methods: Thirty-three consecutive women with hyperandrogenism age 18–38 years undergone overnight 1 mg DEX androgen suppression test and LDDAS...

Background: Graves’ disease (GD) is a complex disease in which genetic predisposition is modified by environmental factors. The pathogenesis of GD and Graves’ orbitopathy (GO) might have a different genetic background – in some patients GO is observed before or late after diagnosis of GD hyperthyroidism. The aim of the study was to assess genetic predisposition to GD and GO in young patients (age of diagnosis ≤30 years of age), in which the time of environ...

Introduction: Treatment of Graves’ Orbitopathy (GO) remains a challenge. Approximately 20-30% of patients show resistance or incomplete response to high-dose glucocorticoid therapy. According to current guidelines the use of tocilizumab (TCZ), a monoclonal antibody against IL6 receptor, has been proposed as one of the second-line therapies.Objectives: Our aim was to assess the efficacy and safety of TCZ treatment in patients with glucocorticoid-resi...

Objectives: Graves’ Disease (GD) is an autoimmune disorder and it is a type of hyperthyroidism. As for its multifactorial etiopathogenesis, it involves various causative agents - first and foremost genetic, as well as environmental (i.e. smoking) and existential ones. Apparently, children may be the group most impacted by genetic influences. Moreover, given disparate clinical responses to antithyroid agents depending on affected patients’ age – finding novel GD ...