Endocrine Abstracts

Ollier disease (OD) is a rare disease, with multiple enchondromas localized in the metaphysis of long bones, hands and feet, developing in the first decade of life, with potential malignant transformation into chondrosarcomas. OD is usually sporadic and probably caused by post-zygotic genetic alterations leading to mosaicism. A PTH/PTHrP receptor type 1 (PTHR1) gene mutation is present in some cases.Case report: A 21-years old male patient was referred t...

Germline AIP mutations (AIPmut) predispose to young onset somatotroph pituitary adenomas (GHPA) and gigantism. AIPmut GHPA are often aggressive and resistant to pharmacological treatment, which may be especially challenging in the paediatric setting. We report our experience with two young Italian AIPmut male patients with incipient gigantism due to childhood pituitary macroadenomas, who both experienced recurrent ...

The aryl hydrocarbon receptor interacting protein gene has been mainly involved in the pathogenesis of GH/PRL-secreting pituitary adenomas (PA). We wished to study the significance of AIP expression in clinically non-functioning PA (NFPA).Material and methods: 48 NFPA -27 gonadotroph (GnPA), 21 null cell (ncPA) – were studied for AIP, βFSH and cyclin D1 expression by real-time RT-PCR (qRT), compared with four normal post-mortem pituitaries (NP)...

Background: Transsphenoidal surgery (TSS) is able to determine the biochemical remission of acromegaly in 45%–80% of the patients, thereby inducing an improvement of cardiovascular function and glucose metabolism. Only 3–5% of acromegalics are diagnosed over 65-years-old, so few data are available about post-operative cardiovascular and metabolic changes in this group.Patients and Methods: Fifteen acromegalic patients ≥65 years-old who un...

Erythrocytosis is a frequent adverse event associated with testosterone (T) administration in aged hypogonadal men, but the mechanisms involved remain poorly understood. T administration to aged men reduced hepcidin (Hpc) levels, a cytokine regulating iron availability, suggesting a potential role in deregulated erythropoiesis. Aim of present study was to evaluate the effects of T replacement therapy on Hpc levels in young hypogonadal men.Methods: Fifty-...

Beta-HLH transcription factors are involved in the ontogenesis of neural/neuroendocrine cells, and may play a role in the pathogenesis of neuroendocrine tumours. Neurogenin 2 (Ngn2) is expressed by the developing mouse pituitary. After preliminary data indicating its expression in the normal human pituitary, we have studied its phenotypic expression in normal and adenomatous pituitary tissues.Methods: Fifty-two pituitary adenomas (PA) – 23 clinicall...

Introduction: Metastatic pituitary neuroendocrine tumors (PitNETs) or pituitary carcinomas are rare and challenging conditions. We present a recent and encouraging observation of a temozolomide (TMZ)-resistant clinically non-functioning metastatic PitNET showing a remarkable response to the anti-PDL1 drug Pembrolizumab.Case presentation: A 57-years-old man had transsphenoidal surgery in November 2012 for a large non-functioning intra/suprasellar mass rev...

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...

Introduction: Paragangliomas are neuroectodermal tumors that arise from adrenal medulla or extra-adrenal ganglia and are characterized by high vascularisation. A high rate of these tumours is genetically inherited. For malignant paragangliomas, chemo- and radio-therapy are potentially effective, but tumor response is of short duration and patient prognosis is quite poor. Sunitinib is a tyrosine-kinase inhibitor, targeting VEGFR1, -2, PDGFRα, -β, RET and c-Kit. Recent...

IntroductionAIP is a predisposing gene for GH/PRL-secreting PitNETs. Clinically non-functioning PitNETs (NFPT) occasionally occur in the setting of AIP germline mutations, sometimes arising from Pit-1 lineages. However, AIP overexpression has been observed in unselected NFPT and associations with the gonadotroph phenotype and/or tumour aggressiveness were suggested. We wished to evaluate the significance of AIP expression in gonadotroph tumours defined b...