Endocrine Abstracts

Acromegaly is associated with skeletal fragility and an increased prevalence of vertebral fractures (VF). In recent years several authors have tried to investigate the markers that can predict the risk of bone fragility in this endocrine disorder. Two different isoforms of the GH receptor (GHR) have been described so far, which differ in the presence or absence of a transcript of exon 3 of the GHR gene. Both isoforms produce a functional receptor, but the exon 3-deleted isofor...

Background: Acromegaly is associated with skeletal fragility and increased prevalence of vertebral fractures (VF). In recent years several authors tried to investigate predictor markers of bone fragility risk in this endocrine disorder. Two isoforms of GH receptor (GHR) have been described, which differ in the presence or absence of a transcript of exon 3 of the GHR gene. Both isoforms produce a functional receptor, but the exon 3-deleted isoforms (d3-GHR) have greater sensiti...

Introduction: Skeletal fragility is a relevant and not-reversible complication of acromegaly, involving around 30-40% of patients since the disease diagnosis. Few studies have investigated the effects on skeletal health of medical therapies for acromegaly. We aim to investigate the frequency of incident vertebral fractures (i-VFs) in patients treated with Pasireotide Lar + Pegvisomant (study group), after at least 24 consecutive treatment months and to compare the i-VFs freque...

Genetic discoveries improved the understanding of the etiology and pathogenesis of several diseases, including acromegaly. Germline mutations involving AIP, MEN1, CDKN1B, GPR101, PRKAR1A, and GNAS genes have been described in GH-secreting PitNETs, but realistically many genetic alterations have not been identified yet. Nowadays, RET mutations have not been reported in acromegaly, if not exclusively in the context of a multiple endocrine neoplasia (MEN). A 48-year-old patient w...