Endocrine Abstracts

We report a family with a novel heterozygous mutation of the menin gene. This gene encodes a tumor suppressor protein which is responsible for multiple endocrine neoplasia type 1. The index female patient presented with symptoms of mild gastric hyperacidity and recurrent kidney stones. Family history revealed, that the daughter, as well as two sisters of the index patient had operations for primary hyperparathyroidism (PHPT). Clinical studies in the index patient showed elevat...

Decreased bone mineral density (BMD) and disturbances in glucose metabolism are common complications of Cushing’s disease. Many recent studies have shown that hyperinsulinemia in type 2 diabetes mellitus (DM) may lead to higher BMD as compared to healthy individuals. The aim of the present study was to investigate the possible relationships between BMD, serum markers of bone metabolism and plasma cortisol concentrations. The second objective was to determine whether the p...

Many previous studies have shown decreased bone mineral density (BMD) in patients with endogenous hypercortisolism, although data on the severity of bone disease are contradictory. There are very sparse data about the correlations between plasma cortisol concentrations and BMD.The study included 188 patients with clinically inactive adrenal adenomas (IAA) and 30 patients with ACTH-independent Cushing’s syndrome (CS) due to adrenocortical adenomas. A...

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...

During pregnancy of healthy women, a great increase of serum little prolactin occurs. In has been also reported that a significant amount of serum big big prolactin (termed macroprolactinemia) may be detected in about 4% of healthy pregnant women. Because the occurrence of macroprolactinemia during pregnancy of women with prolactin-producing pituitary microadenomas has not been extensively investigated, we determined both little and big big prolactin in serum of 97 women with ...

Objectives: Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium-sensing receptor (CaSR). We report the case of a now 11 year-old boy with NSHPT. We characterize a novel inactivating mutation with the results of some functional analyses.Case: In the neonatal age the patient presented the clinical syndrome of NSHPT. At the age of 6 years, persisting hypercalcemia without clinical symptoms was documented, and th...