Endocrine Abstracts

Background: Aberrant cAMP signalling is involved in the pathogenesis of somatotropinomas. Recently, variants of phosphodiesterase type 11A (PDE11A) gene have been described in patients with adrenocortical tumors. Aim of the study was to investigate the presence of these variants in patients with somatotropinomas.Subjects and methods: Germ-line DNA of 78 acromegalic patients was screened for known genetic variants of PDE11A by direct sequencing or restric...

Dopamine agonist cabergoline (CB) is the first-choice treatment in prolactin-secreting adenomas (PRL-omas). It is effective in reducing PRL secretion and tumour size in about 90% of patients by binding dopamine D2 receptor (DRD2). Although no mutations in DRD2 were found, it has been reported that several polymorphisms of this locus associate with alcoholism and schizophrenia, diseases in which dopaminergic system plays an important role. To assess the possible asso...

Patients with primary hyperparathyroidism (PHPT) are at risk of chronic kidney disease (CKD). PHPT patients (n=190, 146 females and 44 males, aged 59.7±14.2 years) and non-hypertensive, non-diabetic age- and sex-matched healthy controls were evaluated for serum cystatin C and creatinine. PHPT patients and controls with established CKD were excluded. Serum cystatin C was measured by immunonephelometric assay and calculation of estimated glomerular filtration rate ...

Introduction: Acromegaly is characterised by chronic exposure to high GH and IGF1 levels that leads to increased bone turnover. Regardless of BMD value, acromegalic patients seem to have an increased vertebral fracture risk probably due to a reduction of bone quality. Trabecular bone score (TBS) is a new index used for assessing bone microarchitecture. In this study TBS was used for the first time to analyze bone quality in acromegaly.Methods: 16 new acr...

Introduction: Pituitary incidentalomas are lesions discovered on an imaging study performed for an unrelated reason. Their frequency varies among 0.2–38% and it is continuously increasing due to the development of neuroimaging techniques. The aim of the study is to investigate clinical and biochemical characteristics of 205 consecutive patients (70% female, mean age 53.6±18.2 years) with incidental pituitary adenoma (IPA) followed at our center from 1990 to present.<...

Generously supported by IPSEN)-->A highly polymorphic microsatellite in the IGF-I gene promoter composed of variable cytosine–adenine (CA) repeats (n=10–24) has been linked to IGF-I levels, risk of diabetes and cardiovascular diseases with conflicting results. Aim of this study was to investigate the impact of this polymorphism on the response to rhGH (mean dose 0.34±0.14 mg/day) in adult GH-deficient (GHD) pa...

Introduction: A highly polymorphic microsatellite, comprising a variable length of a cytosine–adenosine (CA) repeat sequence, has been identified in the promoter region of IGF-I gene. The number of CA repeats ranges between 10 and 24 and the most common allele in the Caucasian population contains 19 CA (192 bp) repeats. Several studies investigated the relationship between this polymorphism and IGF-I levels, with conflicting results. Aim of this study was to investigate t...

Background: GH response to oral glucose tolerance test (OGTT) is currently used for the definition of disease remission in acromegaly. This test has been poorly investigated in other pituitary diseases.Aim: To evaluate the impact of a pituitary disease other than acromegaly on GH response to OGTT.Patients and methods: Eighteen patients (13 F & 5 M, age: 50.7±13.1 years) with different pituitary diseases (i.e. non-functioni...

Background: The d3-growth hormone receptor (GHR) polymorphism is a common variant characterized by genomic deletion of exon 3 (d3) of the GHR gene. It could be linked to a better growth response to GH, but the findings are controversial. Due to the lack of IGF-I feedback on the tumoral GH secretion, acromegaly seems to be a good model to study functional characteristics of this polymorphism. Aim of the study was to investigate possible influences of d3-GHR on GH and IGF-I rela...

The fracture risk in primary hyperparathyroidism (PHPT) is partially independent of bone mineral density (BMD) and seems to depend on decreased bone quality, which is still reliably assessed only with invasive techniques. Trabecular bone score (TBS) is a grey-level texture measurement acquired during a dual X-ray absorptiometry (DXA) lumbar spine scan and it has been recently proposed as index of bone quality. This study is aimed to assess the role of TBS in predictin...