Endocrine Abstracts

Some laminopathies associate both progeria and sclerodermic components (Am J Med Genet A 2006 Hennekam, J Cell Sci 2008 Sagelius), but most sclerodermic syndromes are not associated to LMNA mutations despite the presence of nuclear envelope antibodies, mainly directed to lamin (PNAS 1983 McKeon, Eur Respir J 2011 Dib).A 15-th year old girl was referred for severely imbalanced diabetes and a voracious appetite interpreted as bi...

Context: The influence of beta cell replacement on daily glucose profile in Type 1 diabetes mellitus (T1DM) is not firmly established.Objective: To examine the influence of islet transplantation (IT) on the various component of dysglycemia in T1DM patients.Design, setting and patients: Single arm open labeled study. Twenty-three consecutive patients with T1DM, 11 males and 12 females, 14 non uremic and 9 uremic with a previous kidn...

Pseudohypoparathyroidism (PHP) defines a group of disorders characterized by resistance to PTH. They are classified in type Ia, Ib, Ic and type II according to their clinical and biological characteristics. PHP-Ia is caused by heterozygous mutations in the GNAS1 gene, encoding the alpha subunit of protein Gs. The aim of our study was to describe the diagnostic role of GNAS1 mutation screening in a large group of patients, and to define the intrafamilial transmiss...

Long-term benefit-risk ratio of IT remains poorly evaluated. The aim of this work was to determine the evolution of macroangiopathic complications 5 years after IT.21 out of the 36 prospectively followed islet-transplanted patients in a single center, had at least 5 years of follow-up and were included. Their initial features were: duration of C-peptide negative diabetes: 28±9years; age: 43±7years; BMI: 24±0.2 kg/m2; 8/21 kidney-transplant...

Gitelman syndrome (GS) is a recessive salt loosing tubulopathy caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na+-Cl− cotransporter, and characterized by secondary hyperaldosteronism, hypokalemic alkalosis, hypomagnesemia and hypocalciuria.The aim: Of the work was to investigate 27 adult patients with hypokalemia due to renal potassium wasting after exclusion of diuretics abuse, vomiting or diar...