Endocrine Abstracts

Isolated hypogonadotropic hypogonadism (IHH) is known to decrease bone mineral density due to lack of pubertal surge of gonadotropins and deficiency of sex steroid hormone. Gonadal steroid hormones imbalance affects body composition. Nineteen Caucasian men, 22–48 year old (mean±S.D. 33±7.65) diagnosed with IHH (8 normosmic, 11 anosmic or hyposmic) were enrolled into the study. 14 patients were on hormone replacement therapy (HRT), 5 patients were ...

Objective: To investigate whether three polymorphisms of the glucocorticoid receptor gene known to influence the sensitivity to glucocorticoids could be implicated in the pathomechanism of Graves’ orbitopathy.Methods: Allelic frequencies of the ER22/23EK, Bcl l and N363S polymorphisms of the glucocorticoid receptor gene were investigated in 99 patients with Graves’ orbitopathy (mean age, 47.8±13.4 years) and in 175 healthy individuals (mea...

Introduction: Proton pump inhibitors (PPIs) are widely used for treating various upper gastrointestinal disorders. A well-known side effect of PPI therapy that may cause serious differential diagnostic problems is the elevation of serum chromogranin A (CgA).Objective: We report a case with highly elevated serum CgA in a patient with bilateral adrenal adenomas that was clearly associated with PPI therapy. Suspension of PPI intake for a few days resulted i...

A 17-year-old boy was referred to our Department. In his medical history Crohn’s disease had been supposed because of abdominal pain and distention. He had previously undergone minor surgery as having large tongue with neuromas and hypertrophic gums. Due to his marfanoid appearance, arachnodactyly, massive eyebrows and lips together with his medical history, multiple endocrine neoplasia type 2B (MEN2B) was suspected, which is a very uncommon hereditary disease. It consist...

Background: von Hippel-Lindau syndrome (VHL) is a rare autosomal dominant disease caused by alterations of the vhl tumor-suppressor gene. Patients with VHL are at risk for development of retinal, central nervous system and spine hemangioblastomas, clear-cell renal cell carcinomas, pheochromocytomas, endolymphatic sac tumors and cysts; and pancreatic islet cell tumors. Based on the presence or absence of pheochromocytoma as a phenotypic marker, VHL can be divided into di...

Objective: Genetic variation in the glucocorticoid receptor (GR) gene may be related to the clinical heterogenety and severity of the Cushing’s syndrome. BclI, N363S and ER22/23EK polymorphisms are the three most investigated polymorphisms within the GR gene, however, the importance and magnitude of their effect in hypercortisolemic states are unclear. The BclI and the N363S variants are associated with increased, while the ER22/23EK variant is associated with reduced glu...

Introduction: Multiple endocrine neoplasia type 1 (MEN 1) may present as a familial or a sporadic disorder with multiple endocrine tumours including parathyroid adenomas or hyperplasias, tumours of endocrine pancreatic and pituitary gland. Familial and sporadic MEN 1-related states which do not fulfill current diagnostic criteria but may be related to MEN 1 syndrome have been also described.Aims: The aim of this study was to examine the prevalence and sp...

Objevtives: Maternal hyperandrogenism occurs rarely during pregnancy as the consequense of maternal ovarian or adrenal disorders, or placental aromatase deficiency.Case: A 33-year-old pregnant women was referred because of high serum testosterone (240 ng/dl; normal, 20–60 ng/dl) measured at the 7th week of pregnancy. At presentation she had symptoms of moderate hyperandrogenism, which slightly increased until delivery. Abdominal and pelvic ultrasoun...

Introduction: The most important feature of bone metabolism in patients with Cushing’s syndrome is the uncoupling of osteoblast and osteoclast activity resulting in suppressed bone formation.Objective: The aim of the present study was to investigate the altered bone turnover in patients with various forms of Cushing’s syndrome in the active phase of the disease as well as after successful normalization of cortisol overproduction.<p class="a...

The authors retrospectively analyzed the efficacy of diagnostic procedures and the outcome of treatment by the analysis of data of 187 patients with primary aldosteronism (PA) examined between 1958 and 2004 at the 2nd Department of Medicine of Semmelweis University. Aldosterone-producing adenoma (APA) was detected in 135 patients, whereas idiopathic hyperaldosteronism (IHA) was found in 46 patients. Other subtypes of PA included 5 patients with unilateral primary adrenocortica...