Endocrine Abstracts

Objectives: X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. We report relevant real-world biochemical data following the first 6 months of buros...

Objectives: X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralization of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. We report relevant real-world biochemical data on children under five years old for the first 6 months of treatment.Methods: An early a...

Background: Medullary thyroid carcinoma (MTC) can result from an inherited predisposition related to variants in the RET gene. The insTTCTdelG variant in codon 666 has been previously associated with MTC in one family, but larger studies are not available. We aim to describe biochemical and clinical characteristics associated with this genetic variant in sixteen Belgian families.Methods: Retrospective study of sixteen families in Belgium, evalua...

Aim: In consultation, we check a lot of patients who present with diagnose of FM (fibromyalgia) and chronic fatigue syndrome (CFS). Most of these patients have a underlying diagnosis that causes chronic pain or fatigue. These causes are pathologies not easily detected.Endocrine failure is one of the candidates, with hypofyse dysfunction as a possible candidate.Methods: During 1 year: from October 11, 487 patients presented at the c...

Publication: L. Veldeman et al. Calcif Tissue Int 2020 Epub 2020 Apr 19We describe the case of an adult female patient with symptomatic familial hypocalciuric hypercalcemia requiring a step-wise therapeutic approach and the eventual need for a total parathyroidectomy and thyroidectomy to cure symptoms. Genetic analysis demonstrated a heterozygous R227L inactivating CASR gene variant, previously only described in neonatal severe hyperpar...

Aim: We aimed to describe mortality for both gender in children and adults, in Growth Hormone Deficiency (GHD).Materials and methods: Using three national registries: The Causes of Death Registry, The National Patient Registry, and The Cancer Registry, and The International Classification of Diseases as a filter, we identified a primary cohort of 9,131 patients. All had a high a priori risk of having GHD. All available hospital files (representing 90.2% ...

Background: Scintigrafically cold nodules are hypofunctioning areas in the thyroid gland. These nodules are common and as the risk of malignancy is low, surgery is only necessary in very few cases. Fine Needle Aspiration Cytology (FNAC) is the standard method for detecting malignant tumours. However, FNAC is a difficult diagnostic procedure which often gives insufficient working material.Materials and methods: A prospective study was designed to calculat...

Introduction: The carcinoid heart disease is an uncommon valvular heart disease that may occur in carcinoid syndrome.Valvulopathy is reported in 50% to 70% of patients of carcinoid syndrome, due to the release of serotonin secreted by metastatic cells in the liver, reaching directly right side of heart. The left side is preserved because of inactivation of serotonin by lung parenchyma. Hypoxemia is an unusual presentation of the carcinoid heart disease.C...

Despite significant progress in understanding the regulation of phosphate (Pi) homeostasis over the past 20 years, the mechanisms underlying the very early step leading to the regulating cascade involving multiple hormones (PTH, vitamin D, FGF23) and organs (kidney, intestine, bone, parathyroid glands) are not deciphered. Progress in this area is based on on the ability to identify and characterise the Pi-sensing mechanism in mammals that allow cells or organisms to detect cha...

Introduction: Type 1 diabetes (T1D) is characterized by primary insulin insufficiency and secondary disruption of GH–IGF–IGFBP axis. S.c. insulin therapy is necessary to normalize this axis. This study aimed to investigate whether the distinct insulin profiles obtained with insulin aspart and human insulin preparations, respectively, affect IGF1 concentration and bioactivity and IGFBP levels differently.Methods: In a randomized, four-period cro...