Searchable abstracts of presentations at key conferences in endocrinology

ea0104p29 | Adrenal & Cardiovascular | SFEIES24

Implementing the study into the health status in adults with CAH in the UK and ireland - CAHASE2

Investigators CAHASE2 , Society for Endocrinology

Congenital adrenal hyperplasia (CAH) occurs with an incidence of about 1 in 15,000. Several studies highlighted the suboptimal health status and care provision in adults with CAH that were associated with significant co-morbidities in relatively young adults. In 2023, we implemented CaHASE2 to develop a strategy for prospective collection of longitudinal health data of patients with CAH. Our recent CAH service evaluation suggested significant differences in the approach to CAH...

ea0073aep831 | Late Breaking | ECE2021

Paraneoplastic Cushing syndrome: Diagnostic and management challenge

Bourguiba hospital Fattouma , department Endocrinology , Monastir , Tunisia

IntroductionParaneoplastic Cushing syndrome (CS) due to ectopic ACTH secretion is a rare syndrome usually associated with severe hypercortisolism which is responsible for life-threatening comorbidities. These tumors are often difficult to locate. Among all ACTH-secreting thoracic tumors, well differentiated neuroendocrine tumors located in the bronchi are the most common and account for 20% to 40% of all cases.Case<p class="abs...

ea0032p678 | Neuroendocrinology | ECE2013

Genotype and phenotype characterization of the cohort of Italian patients with idiopathic central hypogonadism (ICH)

Bonomi Marco , Vladimiro Libri Domenico , Guizzardi Fabiana , Duminuco Paolo , Agostino Sinisi Antonio , Simoni Manuela , Magnie Mohamad , Krausz Csilla , Persani Luca , On behalf of the Italian Societies for Endocrinology and Pediatric Endocrinology

ICH is a rare disease characterized by a complex pathogenesis, but with a strong genetic component. ICH may be associated to several other morphogenetic or inborn defects, such as the osmic defects that identify the Kallmann syndrome (KS). The description of several pedigrees including relatives affected either with isolated osmic defects or KS or normoosmic ICH (nICH) justifies the emerging idea of ICH as a complex genetic disease characterized by variable expressivity and pe...

ea0022p725 | Signal transduction | ECE2010

Molecular origin of idiopathic central hypogonadism: variable impairment of two signal-transduction pathways due to PROKR2 mutations

Libri Domenico Vladimiro , Bonomi Marco , Busnelli Marta , Kleinau Gunnar , Krausz Csilla , Beck-Peccoz Paolo , Agostino Sinisi Antonio , Persani Luca , ICH study group of the Italian Societies for Endocrinology and Paediatric Endocrinology

ICH is a heterogeneous disease mainly due to functional defects of GnRH neurons. Recent studies have described the importance of prokineticin pathway in the pathogenesis of these defects. In a series of 166 ICH patients we found germline mutations affecting this pathway in about 10% of the cases. PROKR2 gene analysis revealed 3 novel (V158I, T260M, V334M) and 4 already known (L173R, R268C, V274D, V331M) mutations affecting different transmembrane and intracellular regions of t...

ea0038p317 | Pituitary | SFEBES2015

Patient experiences of living with acromegaly in the UK

Brooke Antonia , Lyttle Jacqui , Goss Lynne , Pobereskin Lou , Peninsula Endocrinology Network

61 patients (104 invited participants), within 10 years of active treatment for acromegaly, from five hospitals in the UK (one neurosurgical centre) were interviewed to explore the experience of living with acromegaly, access to information, support and their ability to make decisions about their care. Semi-structured interviews by an independent consultant (60–120 min each) included 34 males, 27 females; 25–85 years old; 85% patients had surgery. 56 (92%) experience...

ea0037gp.19.07 | Pituitary–Acromegaly | ECE2015

Patient experience of living with acromegaly in the UK

Brooke Antonia , Lyttle Jacqui , Goss Lynne , Pobereskin Louis , South West Peninsula Endocrinology Network

61 patients (104 invited participants), within 10 years of active treatment for acromegaly, from five hospitals in the South West Peninsula (UK) (one neurosurgical centre) were interviewed to explore the experience of living with acromegaly, access to information, support and their ability to make decisions about their care. Semi-structured interviews by an independent consultant (60–120 min each) included 34 males and 27 females; 25–85 years old; 52 (85%) patients h...

ea0056p1100 | Thyroid (non-cancer) | ECE2018

Prevalence of thyroid dysfunction in Catalonia from two different registers: pharmaceutical delivery records and diagnostic records (EUthyroid project)

Torrejon Sara , Soldevila Berta , Martin-Baranera Montse , Puig-Domingo Manel , Velasco Ines , Vila Lluis , Thyroid Area of Spanish Society of Endocrinology and Nutrition

Background: Cross-sectional studies performed to estimate the prevalence (Prev) of thyroid dysfunctions are expensive and involve a great effort. Diagnosis and therapeutic prescription records may be a good alternative to monitor such prevalence. They also allow to easily compare the thyroid dysfunctions prevalence of among different populations (EUthyroid Project).Objective: 1) To estimate the Prev of hypothyroidism (hypoT) and hyperthyroidism (hyperT) ...