Endocrine Abstracts

Introduction: POEMS syndrome is a rare multisystemic disorder including polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma-proliferative disorder and skin changes. We aim to describe the course of the endocrine disease in the context of this paraneoplastic syndrome.Methods: 69 patients with POEMS have been under the MDT care in our hospital. Data is currently available for 32 patients who attended the joint haematological/neurological/endocr...

Introduction: POEMS syndrome is a rare multisystem disorder characterised by polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma-proliferative disorder and skin changes among other features. We describe the course of the endocrine disease in the context of this paraneoplastic syndrome.Methods: Of the 60 patients with POEMS care in hospital, data are available for 43 patients who attended the Joint POEM...

Introduction: POEMS syndrome is a rare multisystem disorder characterised by polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma-proliferative disorder and skin changes among other features. We describe the course of the endocrine disease in the context of this paraneoplastic syndrome.Methods: Of the 60 patients with POEMS care in hospital, data are available for 43 patients who attended the Joint POEM...

Objective: To evaluate the effectiveness and security of bariatric surgery in metabolically healthy obese (MHO).Methods: A retrospective study of a cohort of all obese patients who underwent to bariatric surgery with a minimum two-year follow-up. Databases of all demographic, anthropometric and metabolic characteristics have been collected since 2007. Patients undergoing two surgeries were excluded. We defined as MHO patients those without diagnosis of d...

Introduction: Patients with a germline loss-of-function mutation in AIP are predisposed to young-onset GH excess resulting in gigantism or acromegaly. Acromegaly leads to disease-specific cardiomyopathy with biventricular hypertrophy and diastolic dysfunction progressing to fulminant cardiac failure if left untreated, therefore it is vital to have a tractable animal model to investigate the diseaseFindings: Our AipFlox/Flox;<...

Introduction: Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene predispose to growth hormone (GH, 90% of patients) or prolactin (PRL)-secreting tumours, with negligible number of patients with other pituitary tumour types. Animal models of acromegaly are scarce and Aip models have controversial data. Therefore we have generated two pituitary-specific Aip knockout mouse models to study the consequences of loss of AIP p...

Introduction: Germline AIP and MEN1 mutations are the main known aetiologies of familial pituitary neuroendocrine tumours (PitNETs), which represent 5% of all PitNETs. We compared the clinical and tumour characteristics of AIP (AIP mut) and MEN1 mutation-positive (MEN1 mut) PitNET patients.Methods: We retrospectively analysed 70 MEN1 mut and 167 AIP mut patients with PitNETs. MEN...

Introduction: Sarcoidosis is a rare systemic disease where clusters of immune cells form granulomas in various organs of the body. Its prevalence ranges from 1-40 per 100,000 people in Europe. Neurological involvement of the disease occurs in 5-10% of cases, with the hypothalamus-pituitary gland being one of the most commonly affected structures.Clinical Case: A 36-year-old male with a history of hypertension, obesity, asthma and OSAS. He went to the eme...

Introduction: Non-syndromic pituitary gigantism can result from AIP mutations and the recently identified Xq26.3 microduplications causing X-LAG.Patients and methods: DNA samples and clinical data were collected from 151 patients with pituitary gigantism. All samples were tested for AIP mutations; AIP mutation negative cases (AIPneg) were screened for Xq26.3 microduplications.Results: Xq26.3 micr...