Endocrine Abstracts

Introduction: Turner syndrome is well known, but prognosis for 45,X/46,XX mosaicism under 30% of aneuploidy has not been established. We realised a retrospective study among women aged 21–43 years, to evaluate differences in clinical features and biological parameters between patients who had sex chromosome mosaicism diagnosed incidentally and controls women.Material and methods: Among infertile population, 71 women with sex chromosome mosaicism (45...

We studied 84 patients with neuropsychological disabilities at least 1 year after TBI. 24 patients had severe GHD (29%). The aim of this study was to evaluate the effects of six months GH treatment on quality of life and metabolism in this group.GH treatment was initiated in 17 patients (71%), planned with 3, declined by one, contra-indicated in 2, 1 patient moved. It lasted more 6 months in 16 of them (14 men, mean age 36±12, mean delay after TBI 7...

Sex hormone binding globulin (SHBG) is a plasma glycoprotein responsible for high-affinity binding and transport of sex steroids. In men there is a large interindividual variation of SHBG levels, and consequently of serum total testosterone (T) and serum total estradiol (E2) levels. Family and twin studies suggested a strong genetic contribution to this variation, besides a hormonal and metabolic influence. The aim of this study was to examine the influence of a missense mutat...

Sertoli cell-only syndrome (SCOS) is characterized by a lack of germ cells and thickened seminiferous tubule walls and is a frequent finding among men with non-obstructive azoospermia. Spermatogenesis is dependent upon the function and number of Sertoli cells (SC) to support the developing germ cells. Klinefelter syndrome is the most frequent genetic cause of SCOS and presents histological features in common with idiopathic SCOS. Aim of this study was to analyze the relationsh...

Objectives: The selective estrogen receptor modulator, raloxifene, exerts a part of its actions through the estrogen receptor alpha activation. We explored if polymorphisms of ESR1 gene modify the effects of 6 months raloxifene treatment on endothelial function.Methods: Two intronic (PvuII and XbaI), and one exonic polymorphism (P325P) of ESR1 were analyzed in 53 postmenopausal women, mean age 59.7+6.2. The flow mediated endothelium ...

Kallmann’s syndrome (KS) is proposed to result from disrupted migration of both olfactory sensory axons and hypothalamic gonadotrophin-releasing hormone (GnRH1) neurons during embryogenesis. KAL1 (encoding anosmin-1) and KAL2 (encoding the fibroblast growth factor receptor 1, FGFR1) are responsible for approximately 20% of KS cases, and in an ex vivo system it has been reported that anosmin-1 enhances FGFR1 signalling in a ligand (FGF)- and heparan su...

Objective: Orexin-A and orexin-B and their G-protein coupled receptors (orexin receptor-1 & -2: OX1R, OX2R) have divergent effects on physiological behaviour, cardiovascular regulation, glucocorticoid and insulin release. Furthermore, orexins have been shown to affect both brown adipose tissue energy expenditure and thermogenesis through stimulation of sympathetic nerve activity. Despite in vivo studies demonstrating a role for orexins acting centrally on adipose ti...

Objective: Orexin-A and orexin-B and their G-protein coupled receptors (orexin receptor-1 & -2: OX1R, OX2R) have divergent effects on physiological behaviour, cardiovascular regulation, glucocorticoid and insulin release. Furthermore, orexins have been shown to affect both brown adipose tissue energy expenditure and thermogenesis through stimulation of sympathetic nerve activity. Despite in vivo studies demonstrating a role for orexins acting centrally on adipose ti...

We analyzed the eating behavior and physical activity in patients operated in our obesity surgery center and their relation to weight loss. We mailed to patients a simple self-questionnaire to assess the use of eating or physical activity advices given from our stuff during the preoperative period. Patients had a bariatric surgery from September 1, 2013 to August 2016 Questionnaires were collected during their follow-up (September 2017). One hundred forty four out of 750 patie...

Pheochromocytoma is a rare tumor of the adrenal medulla, responsible for excessive secretion of catecholamines. Symptoms include the classic triad: headache, palpitations and sweating, usually accompanied by hypertension. We report the case of a pheochromocytoma diagnosed following an episode of testicular necrosis. A 72-year-old patient with history of psoriasis and prostate resection underwent emergency surgery for increased testicular pain suspicious of testicular tumor. Pa...