Endocrine Abstracts

Introduction: Somatotropinomas are benign pituitary tumors with heterogeneous biological and clinical behavior. The tumor microenvironment (TME) is an environment generated by the interaction between tumor cells and the host immune system. It affects both the behavior of the tumor and the outcome of the therapy. The GNAS gene encodes the alpha subunit of G proteins associated with hormone receptors such as TSH, PTH, GHRH, FSH/lH, ACTH. Mutation of this gene has been associated...

Somatotropinomas are benign pituitary tumors, with a heterogenous biological and clinical behavior. Tumor microenvironment reflects the interaction between tumor cells and the host immune system and may regulate tumor behavior and therapy outcome. We develop a scoring system that includes clinical, pathological and immune markers to early identify fg-SRLs resistant acromegaly pts. 43 acromegaly pts were included according the following criteria (1) first line treatment with su...

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...

Introduction: The Morris syndrome, is a rare X-linked disorder in which patients with XY chromosomal makeup (corresponding to a male genotype) develop female sexual characteristics. Acromegaly is a rare disease related to excessive production of growth hormone (GH) and insulin growth factor-I (IGF-I). Rarely, acromegaly was reported to be associated to a chromosomal microduplications of Xq26.3, responsible for early onset form of acro-gigantism. However, cases of acromegaly as...

Introduction: Infundibulo-neurohypophysitis (INH) is an uncommon inflammatory disorder. Because of the location of inflammation, it selectively affects the neuropituitary and pituitary stalk. The differential diagnosis remains often challenging with neoplastic lesions, such as germ cell neoplasia, Langerhans cell histiocytosis, Erdheim-Chester Disease, metastasis. Our clinical case is emblematic for pitfalls in diagnosis of the pituitary stalk lesionCase...

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...

Background: Pituitary metastases are rare findings and account for 1% of surgically treated pituitary lesions. Despite the low incidence, given the frequent compression exerted on surrounding structures, pituitary metastases can present with major symptoms such as headache, visual disturbances and visual field. Ultimately, damage to the pituitary gland may be associated with electrolyte disturbances.Clinical case: A 57-year-old male patient was admitted ...