Endocrine Abstracts

The treatment of choice for ACTH-producing pituitary adenoma is selective transsphenoidal adenomectomy. The remission rate after transsphenidal surgical intervention for Cushing’s disease ranges from 69 to 98% (average 83%). If the first pituitary surgical intervention fails, the following questions should be answered: i) Is the localization diagnosis correct without doubt (pituitary or ectopic source of ACTH- overproduction)? ii) Is it reasonable to recommend repeat pitu...

Background: Loss of function mutations of the type-2 vasopressin receptor (V2R) in kidney lead to nephrogenic diabetes insipidus (NDI). The function of mutant receptors can be rescued using ligands resulting sufficient amount of plasma membrane localized V2Rs in a conformation which are able to generate cAMP signal. We examined a previously described, not characterized mutation. In order to determine personalized therapy for the individual the properties of the mutant receptor...

Oncogenic osteomalacia (tumor induced osteomalacia-TIO) is a rare disease that can lead to severe physical handicap and pains. Its pathogenesis involves the secretion of fibroblast growth factor-23 inducing urinary phosphate loss and consequent hypophosphataemia. We report a case of a TIO caused by a tumor in the nasal cavity. In 2010, a 61-years-old woman was examined because of muscle weakness and arthralgia in the extremities. Her symptomes started ~3 years before her prese...

Objective: Several studies including ours have reported significant associations between polymorphisms (SNPs) of the HSD11B1 gene and bone metabolism. The aim of the present study was to explore systematically the potential associations between SNPs of the HSD11B1 gene and bone mineral density (BMD) in women with endogenous Cushing’s syndrome (CS) and healthy postmenopausal women.Patients and methods: A complex bioinformatical including haplotype an...

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...

Background: Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare, mostly benign tumors. Most of these tumors are sporadic but a significant percentage can be found as components of hereditary tumor syndromes caused by germline mutations of the VHL, RET, NF1, SDHD, SDHC, SDHB and the recently identified SDHAF2 genes. Germline mutations of these genes can be also found in several cases with apparently sporadic Pheo/PGL.<...

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 ...