Endocrine Abstracts

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...

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...

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...

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...

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...

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) ...