Endocrine Abstracts

Disorders of calcium metabolism arise in a familial or sporadic setting. The resulting hypo- or hypercalcemia can induce serious clinical features. Calcium sensing receptor (CaSR) plays a key role in maintaining this balance and its molecular investigation is useful to determine the nature of a certain condition or to choose the appropriate therapeutic approach.In the present study we reported two clinical cases. A 16-year-old patient had a mild hypercal...

Background: Parathyroid carcinoma (PCa) is a rare disease that can be difficult to differentiate initially from benign parathyroid adenoma. PCa over-secrete the amino form of parathyroid hormone (PTH), which is recognized by 3rd generation but not by 2nd generation (‘intact’) PTH assays. In normal individuals, the 3rd generation/2nd generation PTH ratio should always be <1.Material and methods: We studied the utility of the 3rd generation/2...

BackgroundHypoparathyroidism is characterized by insufficient levels of parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, hypercalciuria, and a reduced quality of life (QoL). PTH replacement therapy should restore physiologic levels of PTH and restore downstream physiologic levels of calcitriol, promoting independence from Ca and active vitamin D supplements and normalization of QoL. TransCon PTH is an investigational long-acting p...

Background: Prolactinomas are the most frequent secreting pituitary adenomas encountered in the clinical setting. Cabergoline is considered the mainstay medical treatment and transsphenoidal surgery (TSS) is recommended for patients that are medically resistant to dopamine agonist therapy. Resistance to dopamine agonists is commonly defined as failure to normalize prolactin and less than 50% decrease in tumor diameter at a maximal labeled dose of 2.0 mg/week. Pasireotide LAR (...

Increased secretion of GH results in gigantism in children/adolescents and in acromegaly in adults; the relative roles of the various genetic causes of acromegaly and gigantism are still unclear. To analyse the genetic causes and inherited/familial features in patients with pituitary gigantism, we studied a large international cohort. Genetic or inherited characteristics were observed in 39% of patients and included familial isolated pituitary adenomas (FIPA; n=28), M...

Objective: NPY2R is a G-protein-coupled receptor which is highly expressed in orexigenic NPY/AGRP neurons within the arcuate nucleus, a major integrator of appetite control in the hypothalamus. Genetic evidence coming from animal and association studies, has identified NPY2R as a candidate gene for obesity. Therefore we have designed an extensive mutation and CNV-analysis investigating the prevalence of genetic and structural variation in NPY2R.Design an...

Peroxisome-proliferator activated receptors (PPARs) are involved in a number of neoplasia. PPARα (PPARα) is a partner of the aryl hydrocarbon receptor interacting protein (AIP), which is involved in the pathogenesis of pituitary adenomas (PA). We wished to investigate the potential expression and biological significance of PPARα in PA, especially in GH/PRL-secreting tumours.Material and methods: A large series of PA was collected (n</e...

The aryl hydrocarbon receptor interacting protein (AIP) gene is abundantly expressed in normal somatotrophs. Somatotropinomas in patients with germline AIP mutations (AIPmut) are typically more aggressive than non-AIPmut adenomas and associated with higher GH/IGF1 secretion. AIP downregulation may also occur in sporadic somatotropinomas, especially in invasive tumours. We wished to evaluate the impact of somatostatin analogues (SSA) pre-treatment on AIP expression in sporadic ...

Background: Familial isolated pituitary adenomas (FIPA) is a rare inherited disorder accounting for about 2% of pituitary adenomas. Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of FIPA families and rarely in early onset sporadic pituitary adenomas. Among the AIP mutations reported so far, the R304X represents, after the Finnish founder mutation Q14X, the second most common one.Me...

Introduction: Metyrapone blocks cortisol production by inhibiting 11ß-hydroxylation of 11-deoxycortisol, the last step of cortisol synthesis. Based on observational retrospective studies published over more than 50 years metyrapone is approved for the treatment of endogenous Cushing’s syndrome (CS) in 14 European countries. PROMPT is the first prospective study to document the safety and efficacy of metyrapone using modern assay techniques.Desi...