Searchable abstracts of presentations at key conferences in endocrinology

ea0011p540 | Endocrine tumours and neoplasia | ECE2006

Novel L30LR heterozygous mutation of the menin gene in a Hungarian MEN 1 family

Gergics P , Balogh K , Toth M , Patocs A , Hunyadi L , Czirjak S , Horanyi J , Gyorkos A , Racz K

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...

ea0011p766 | Steroids | ECE2006

Bone mineral density in patients with cushing’s disease. the impact of impaired glucose homeostasis

Toth M , Toke J , Futo L , Patocs A , Bertalan R , Gergics P , Varga I , Glaz E , Racz K

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...

ea0011p767 | Steroids | ECE2006

Bone mineral density and its correlation with plasma cortisol concentrations in patients with inactive adrenal adenomas and in patients with subclinical and overt Cushing’s syndrome

Futo L , Toke J , Patocs A , Gergics P , Bertalan R , Varga I , Sereg M , Glaz E , Racz K , Toth M

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...

ea0014p156 | (1) | ECE2007

MEN2B – Two simultaneous cases of a rare syndrome

Sallai Ágnes , Hosszú Éva , Gergics Péter , Tulassay Zsolt , Rácz Károly , Fekete György

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...

ea0011p660 | Reproduction | ECE2006

Prevalence of macroprolactinemia during pregnancy of women with prolactin-producing pituitary microadenomas

Varga I , Jakab C , Toldy E , Gergics P , Toth M , Kiss R , Szucs N , Pusztai P , Patocs A , Adler I , Glaz E , Racz K

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 ...

ea0014p497 | (1) | ECE2007

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene

Toke Judit , Czirják Gábor , Patócs Attila , Enyedi Balázs , Gergics Péter , Csákváry Violetta , Enyedi Péter , Tóth Miklós

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...