Endocrine Abstracts

Introduction: Acromegaly is a chronic disease that requires continuous follow-up and examinations over time. During the COVID-19 pandemic outbreak many endocrinological scientific societies recommend to reduce pituitary patient access to hospital facilities to decrease risk of infection. Aim: The aim of our study is to evaluate the impact of restrictions on outpatient access in the clinical management of the patient with acromegaly during COVID19 pandemi...

Background: Pasireotide is a multi-ligand somatostatin analogue licensed in a long-acting release formulation (PAS-LAR) for the treatment of acromegaly. The real-life reports with PAS-LAR are still scanty.Objectives: To assess the efficacy and safety of PAS-LAR in patients with acromegaly.Patients and methods: Prospective observational multi-centre study enrolling acromegalics evaluated before (baseline) and 1, 6, 12, 24, and 36 mo...

Background: Alström Syndrome (ALMS, OMIM 203800) is an ultra-rare disease caused by autosomal recessive mutations of the ALMS1 gene (2p13). ALMS is characterized by double sensory impairment and systemic comorbidities, including hyperandrogenism in female patients. Fertility issue and conception have not been systematically studied.Case: This case report describes the pregnancy and birth by an ALMS patient with mild phenotype, characterized...

Background: Alstrom syndrome (AS; OMIM#203800) is a rare (<1:100.000) autosomal recessive monogenic ciliopathy and it is caused by mutations in ALMS1 (chromosome 2p13), which function is still unknown. AS is characterized by multisystemic fibrosis, cone-rod retinal dystrophy leading to blindness, hearing loss, obesity, type 2 diabetes mellitus (T2DM), dilated cardiomyopathy, and progressive hepatic and renal failure. Most patients present neurological issue on developmenta...

Background: RhGH treatment in adults with childhood onset growth hormone deficiency (COGHD) affect bone metabolism over time according to gender and age. A long-term study of bone mass density (BMD) in young-middle age hypopituitary patients with COGHD may better highlight possible benefits of therapy and improve clinical follow up.Methods: We enrolled 40 adults (age range during follow-up: 16.8–36 years, F: 38%) with COGHD with at least 20 years o...

Background: In the general population, sleep disorders are associated with an increased risk of cognitive impairment; moreover, people with dementia often have sleep disturbances. The prevalence of sleep disorders, such as sleep apnea, in acromegalic patients is higher than in the general population, and they may have a higher risk of cognitive impairment due to acromegaly treatment (i.e. Radiotherapy) or cardiovascular comorbidities. In the literature, data about the relation...

Background: Pasireotide LAR is a multireceptor targeted somatostatin analogue that has been shown to obtain a better biochemical control of acromegaly. However, pasireotide LAR could induce hyperglycemia in acromegalic patients with higher baseline glucose values. The devices that can track interstitial glucose levels such as continuous glucose monitoring (CGM) could be a useful for studying the impact of SSA on patients’ glucose status.Aim: We aime...

Background: Pegvisomant (PEG) is a second line medical treatment for active acromegalic patients. PEG efficacy is between 61.5 and 92% and even if it is administered daily its long half-life suggests a possible use with a non-daily regime.Aim: We aim to compare acromegalic patients on daily PEG administration (DP) with patients on non-daily PEG administration (NDP).Methods: We studied 43 acromegalic patients under PEG treatment bet...

Introduction: Acromegalic cardiomyopathy is characterized by myocardial hypertrophy and interstitial myocardial fibrosis at biopsy. We studied left ventricular hypertrophy -LVH- through echocardiography (-ECHO- 2-D standard echocardiography and Doppler analysis) and cardiac magnetic resonance (CMR) analysis. Myocardial fibrosis was studied with late enhancement technique (LE) and extracellular volume technique (ECV) at CMR.Methods: 25 patients -pts- (13 ...

Objectives: We aimed to develop a registry for the rare genetic diseases Wolfram (WS), Alstrom (AS), Bardet Biedl (BBS) and other diabetes syndromes, containing clinical, genetic diagnostic and outcome data. The purpose is to establish the natural history of these diseases; to assess clinical management; to characterize cohorts for future clinical trials; and to establish genotype phenotype relations. This abstract describes the first 50 patients recruited.<p class="abstex...