Endocrine Abstracts

Objectives: X-linked hypophosphatemic Rickets (XLHR) is characterized by phosphate wasting and decreased production of 1,25OH-vitamin D, due, in most patients, to elevated FGF23 and PHEX mutation. In children, the disease has been extensively studied because of the devastating presentation of rickets, teeth abcesses, and growth retardation. In adults, however, metabolic complications, such as hyperparathyroidism or consequences on glucose and lipid metabolism of FGF23 excess, ...

Background: PNPLA6 mutations are associated with complex autosomal recessive disorders including congenital hypogonadotropic hypogonadism (CHH): Gordon-Holmes syndrome, Boucher-Neuhauser syndrome and hereditary spastic paraplegia, which include ophthalmologic and neurologic disorders in addition to CHH. PNPLA6 gene encodes the neuropathy target esterase (NTE), an endoplasmic reticulum-associated enzyme intervening in the metabolism of membrane phospholipids.<...

Background: Medical treatment with cortisol-lowering drugs is commonly used following pituitary surgical failure or recurrence of hypercortisolism in patients with Cushing’s disease (CD). Studies using late-night salivary cortisol (LNSF) measurement have shown persistent disruption of the circadian secretion of cortisol despite normalization of UFC in a subset of medically treated CD patients. Study aim Our objective was to assess the long-term cortisol exposure in CD pat...

Context: Surgical intervention is advised in patients with multiple endocrine neoplasia type-1 (MEN-1) with non-functioning pancreatic neuroendocrine tumors (PanNET) and a size ≥20 mm. However, functioning PanNET such as patients with endogenous hyperinsulinemic hypoglycemia (EHH) due to (one or multiple) insulinomas should be treated surgically independent of size. Reliable preoperative localization of insulinomas is critical for surgical strategy.<p class="abstext"...

Background: X-linked hypophosphatemia (XLH) is a rachitic disorder characterized by renal tubular phosphate wasting resulting from increased circulating activity of the fibroblast growth factor FGF23. Secondary and tertiary hyperparathyroidism have been reported in XLH patients in small retrospective studies, however this complication has never been systematically evaluated in a large cohort.Aim of the study: To compare parathyroid function of adult XLH ...

Introduction: Surgery is often the only treatment option that can effectively treat patients with insulinoma in MEN-1. However, the surgical intervention should be limited as surgery can not cure patients with MEN-1. It is, therefore, mandatory to correctly localize insulin secreting tumors from other neuroendocrine tumors.Materials and Methods: In this report we include 6 patients with proven endogenous hyperinsulinemic hypoglycemia and neuroglycopenia ...

Increased secretion of GH results in gigantism in children/adolescents and in acromegaly in adults; the relative roles of the various genetic causes of acromegaly and gigantism are still unclear. To analyse the genetic causes and inherited/familial features in patients with pituitary gigantism, we studied a large international cohort. Genetic or inherited characteristics were observed in 39% of patients and included familial isolated pituitary adenomas (FIPA; n=28), M...

Introduction: Acromegaly is characterised by chronic, excessive secretion of GH and increased IGF1 levels caused by benign pituitary adenoma. This study aimed at describing the symptoms and comorbidities of acromegaly at diagnosis, in a large cohort of patients diagnosed between 2009 and 2014.Methods: Observational, cross-sectional, multicentre study conducted in France between September 2013 and June 2014. Adult patients with acromegaly diagnosed for &#...

Background: The benefit to risk ratio of mitotane high starting dose regimen in ACC remains unknown.Methods: To evaluate a high starting dose strategy, we performed a single-center, prospective study with three main objectives: 1) to assess the time taken to reach a mitotane plasma level above 14 mg/l (benefit); 2) to evaluate mitotane tolerance (risk) in the first 3 months of treatment and 3) to analyse the correlation using a regression analysis test b...

Context: In patients with hypoparathyroidism refractory to conventional treatment, recombinant human (rh)PTH(1-84) or rhPTH(1-34) can be used as second-line therapy and effectively control hypocalcaemia. However, whether rhPTH replacement therapy is safe in the long term is unclear. Our objective was to assess bone effects of long-term therapy of chronic hypoparathyroidism with rhPTH(1-34). Methods: We conducted a monocenter retrospective cross-sectional...