Endocrine Abstracts

Background: Many children with short stature (defined as height SDS <−2 S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age (SGA) or idiopathic short stature (ISS) depending on birth size. Adult height is a polygenic trait and has been associated with >180 single nucleotide polymorphisms (SNPs) to date. We hypothesized that sequence variants (SNPs or insertion/deletions (indels)) in cand...

Introduction: Dyslipidemia and impaired fertility are highly related. In animals, statin intake reduces sperm parameters deterioration associated with hypercholesterolemia. However, statin effects on human fertility are controversial. Their intake by hypercholesterolemic patients could reduce circulating testosterone concentration and sperm quality. While recommendations for cardiovascular prevention advocate lowering total cholesterol and LDL-C, atorvastatin, the most prescri...

Purpose: Persistence of well-differentiated thyroid carcinoma most commonly involves cervical lymph nodes. The purposes of the study were to evaluate the ability of FDG-PET/CT imaging to localize residual disease in initial stage M0 thyroid carcinoma thyroid cancer patients and to compare FDG-PET/CT to neck US.Methods: FDG-PET/CT and neck US results of 93 patients were retrospectively analysed. All FDG-PET/CT were performed during thyrotropin stimulation...

Purpose: The widespread use of high resolution cross-sectional imaging such as computer tomography (CT) and magnetic resonance imaging (MRI) for the investigation of the abdomen is associated with an increasing detection of incidental adrenal masses. 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) has proved to be an efficient tool in the diagnosis and follow-up of malignancies. We evaluated the ability of FDG-PET to distinguish benign from malignant adrenal mass...

Sixty patients with traumatic brain injury are newly diagnosed every year in our island, particularly in patients with addictive behaviours. In France, it is the 4th rank of health expenses, as a major issue of public health care. In order to perform a first endocrine assessment, we performed a pilot study to diagnose traumatic brain injury induced hypopituitarism, assessed at least 6 months after injury, in moderate to severe traumatic brain injuries patients, hospitalized in...

The 11-beta hydroxysteroid dehydrogenase (11βHSD) isozymes are well-known regulators of glucocorticoid hormone metabolism: 11βHSD2, mostly expressed in the distal nephron, converts cortisol [F] into cortisone [E] in humans or corticosterone into 11-dehydrocorticosterone in rodents (11-dehydro derivatives being inactive compounds), and 11βHSD1, ubiquitously expressed but predominantly in the liver, catalyzes the opposite reaction. Under pathophysiological conditi...

Introduction: Adrenal pheochromocytomas have the same embryonic origin, i.e. the neural crest, as peripheral neuroblastic tumors such as ganglioneuromas, ganglioneuroblastomas and neuroblastomas. Ganglioneuromas are benign and silent tumors in that they usually do not secrete catecholamines in contrast to pheochromocytomas. Rarely, they can associate with pheochromocytomas to form composite tumors.Patients and methods: We have retrospectively studied sev...

Context: KISS1R mutations have been implicated in patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).Objective: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to two unrelated families, and to functionally characterize a novel KISS1R mutation.Results: The p.Tyr313His original mutant was found in the homozygous state in three affected kindr...

The G protein-coupled (GPCR) somatostatin receptor sst2 transduces the majority of somatostatin actions, including inhibition of hormone and growth factor secretion, cell survival and angiogenesis. Sst2 agonists such as octreotide are widely used for the treatment and diagnostic of human neuroendocrine tumors that frequently over-express sst2. To initiate its inhibitory signalling pathways, sst2 engages, in addition to G protein subunits, different protein partners such as pho...

Adrenocortical sarcoma is an extremly rare tumour associated with a quite pejorative evolution.We report the case of a fifty-eight years old woman presenting a chronic asthenia and acute flank pain. She had no hypertension, no clinical sign of virilization or hypercorticism. Abdominal ultrasonography revealed an 8 centimeters mass above the right kidney. CT scan aspect evoked an adrenal carcinoma embolizing vena cava. Hormonal assays did not reveale any inappropriate secretion...