Endocrine Abstracts

Radioactive and transgenic tracing experiments indicate that in the adult adrenal stem cells persist in the periphery of the cortex, which migrate centripetally and populate the inner cortical zones upon differentiation. However, investigation of these cells has been hampered by the lack of known marker genes. Vital Hoechst dye exclusion has been described as a method for isolating a side population (SP) from mouse bone marrow, which was enriched with stem cells. Utilizing thi...

Background: Autoantibodies directed against complement C1q (anti-C1q) have been described in a number of systemic autoimmune disorders. In systemic lupus erythematosus, they are strongly associated with proliferative lupus nephritis. However, no study has focused on the presence of anti-C1q in organ specific autoimmune disorders. The aim of this study was to determine the prevalence of anti-C1q in autoimmune thyroid disorders (AITD).Methods: Serum levels...

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...

Background: Transsphenoidal surgery (TSS) is able to determine the biochemical remission of acromegaly in 45%–80% of the patients, thereby inducing an improvement of cardiovascular function and glucose metabolism. Only 3–5% of acromegalics are diagnosed over 65-years-old, so few data are available about post-operative cardiovascular and metabolic changes in this group.Patients and Methods: Fifteen acromegalic patients ≥65 years-old who un...

The calcium-sensing receptor (CaSR) plays a central role in regulating parathyroid hormone (PTH) secretion in response to changes in extracellular calcium. The CaSR is a G-protein-coupled receptor and ligand binding results in stimulation of phospholipase C (PLC) activity, causing accumulation of inositol 1,4,5-triphosphate (IP3) and the rapid release of calcium ions from intracellular stores. Given the pivotal role of the CaSR in calcium homeostasis, we decided to ...

Aldosterone is key in the development of hypertension. We have shown that a SNP (−344T) in the 5’ regulatory region (UTR) of the gene encoding aldosterone synthase (CYP11B2) was associated with aldosterone excess and high blood pressure. However, the most robust phenotype is altered adrenal 11-hydroxylation efficiency (deoxycortisol to cortisol); a step carried out by 11β-hydroxylase, encoded by the adjacent gene, CYP11B1. We proposed that the effects of CYP11B...

Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. R482-LMNA gene mutation is the hot-spot for familial partial lipodystrophic syndromes (FPLD2) and is characterized by an increase of intra-abdominal (visceral) fat. In contrast, the visceral fat phenotype of non-R482-LMNA mutated patients has not been well studied.Objectives: To compare the fat amount and visceral repartition o...

Introduction: Insulinoma is the most frequent functional endocrine tumor of the pancreas but remains rare with an incidence of less than 5 cases by million and by year. It is often sporadic but can occur in the context of MEN1 in about 5% of cases, being then readily multiple. Clinically, it is typically responsible for fasting hypoglycemic episodes. Only one case of multiple insulinomas, with no obvious argument for MEN1 context, has previously been reported (Babic an al., <e...

Background: Over the last 20 years there have been significant advances in stem cell transplantation (SCT) in adults for haematological malignancies leading to improved survival. Endocrine disorders are among the most common complications in survivors after hematopoietic allogeneic stem cell transplant (HSCT), but data on adult transplant patients are still scarce.Methods: This is a retrospective study which included 284 adult patients (94 females and 19...

Background: HNF1β mutations are one of the commonly identified genetic causes of renal malformations, but one of the less common forms of MODY. HNF1β is involved in the development of kidneys, liver, pancreas, intestine and urogenital tract. Patients can present with distinctive but highly variable clinical features. The aim of this study is to evaluate the clinical, biochemical and radiological variability of HNF1β variants and the challenge of management on th...