Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

abstract：BACKGROUND AND AIM:Several basic science studies support the existence of non-genomic glucocorticoid signaling in pancreas, liver, and adipocytes, but its clinical relevance has not yet been elucidated. This study aimed at investigating the rapid effects of hydrocortisone on the human metabolic response to glucose. SU...

journal_title：European journal of endocrinology

authors： Vila G,Krebs M,Riedl M,Baumgartner-Parzer SM,Clodi M,Maier C,Pacini G,Luger A

更新日期：2010-08-01 00:00:00

abstract：CONTEXT:The TIMES2 (testosterone replacement in hypogonadal men with either metabolic syndrome or type 2 diabetes) study reported beneficial effects of testosterone replacement therapy (TRT) on insulin resistance and other variables in men with diabetes or metabolic syndrome. The androgen receptor CAG repeat polymorphi...

journal_title：European journal of endocrinology

authors： Stanworth RD,Akhtar S,Channer KS,Jones TH

更新日期：2013-12-21 00:00:00

abstract：Context:The human adrenal is the dominant source of androgens in castration-resistant prostate cancer (CRPC) and classic 21-hydroxylase deficiency (21OHD). Abiraterone, derived from the prodrug abiraterone acetate (AA), inhibits the activity of cytochrome P450 17-hydroxylase/17,20-lyase (CYP17A1), the enzyme required f...

journal_title：European journal of endocrinology

authors： Wright C,O'Day P,Alyamani M,Sharifi N,Auchus RJ

更新日期：2020-04-01 00:00:00

abstract：OBJECTIVE:To estimate the incidence of nutritional rickets and the incidence and prevalence of hereditary rickets. DESIGN:Population-based retrospective cohort study based on a review of medical records. METHODS:Patients aged 0-14.9 years referred to or discharged from hospitals in southern Denmark from 1985 to 2005 ...

journal_title：European journal of endocrinology

authors： Beck-Nielsen SS,Brock-Jacobsen B,Gram J,Brixen K,Jensen TK

更新日期：2009-03-01 00:00:00

abstract：OBJECTIVE:To determine if functional imaging using 11C-methionine positron emission tomography co-registered with 3D gradient echo MRI (Met-PET/MRI), can identify sites of residual active tumour in treated acromegaly, and discriminate these from post-treatment change, to allow further targeted treatment. DESIGN/METHOD...

journal_title：European journal of endocrinology

authors： Koulouri O,Kandasamy N,Hoole AC,Gillett D,Heard S,Powlson AS,O'Donovan DG,Annamalai AK,Simpson HL,Akker SA,Aylwin SJ,Brooke A,Buch H,Levy MJ,Martin N,Morris D,Parkinson C,Tysome JR,Santarius T,Donnelly N,Buscombe

更新日期：2016-11-01 00:00:00

abstract：BACKGROUND:Primary aldosteronism (PA) is the most common form of secondary hypertension, while Gitelman's syndrome (GS) is the most common inherited renal tubular disease. However, coexistence of these two diseases has never been previously reported. AIM AND SUBJECTS: The aim of our study was to describe the associatio...

journal_title：European journal of endocrinology

authors： Miao Z,Gao Y,Bindels RJ,Yu W,Lang Y,Chen N,Ren H,Sun F,Li Y,Wang X,Shao L

更新日期：2009-08-01 00:00:00

abstract：:Orthodenticle homolog 2 (OTX2) is a homeobox family transcription factor required for brain and eye formation. Various genetic alterations in OTX2 have been described, mostly in patients with severe ocular malformations. In order to expand the knowledge of the spectrum of OTX2 mutation, we performed OTX2 mutation scre...

journal_title：European journal of endocrinology

authors： Gorbenko Del Blanco D,Romero CJ,Diaczok D,de Graaff LC,Radovick S,Hokken-Koelega AC

更新日期：2012-09-01 00:00:00

abstract：:Cinacalcet HCl, an allosteric modulator of the calcium-sensing receptor (CaR), has recently been approved for the treatment of secondary hyperparathyroidism in patients with chronic kidney disease on dialysis, due to its suppressive effect on parathyroid hormone (PTH) secretion. Although cinacalcet's effects in patien...

journal_title：European journal of endocrinology

authors： Kawata T,Imanishi Y,Kobayashi K,Kenko T,Wada M,Ishimura E,Miki T,Nagano N,Inaba M,Arnold A,Nishizawa Y

更新日期：2005-10-01 00:00:00

abstract：BACKGROUND:The aim was to evaluate changes of bone mineral density (BMD) and markers of bone turnover in healthy adolescents, and in adolescent users of combined oral contraceptives (COCs) with different ethinylestradiol (EE) contents. METHODS:In this prospective crossover study, 56 healthy females (15-19.5 years) wit...

journal_title：European journal of endocrinology

authors： Cibula D,Skrenkova J,Hill M,Stepan JJ

更新日期：2012-06-01 00:00:00

abstract：:A large majority of the currently diagnosed patients with hyperparathyroidism (PHPT) are mild or asymptomatic, mainly women after menopause. Following the debate held at the 16th European Congress of Endocrinology in Wroclaw (Poland) from May 3-7, 2014, arguments are here presented by a surgeon and a medical practitio...

journal_title：European journal of endocrinology

authors： Niederle B,Wémeau JL

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVE:Most studies on treatment of microprolactinoma have focused on clinical and biochemical outcome rather than on functional and mental well-being. We evaluated this topic in female patients with microprolactinoma, because other pituitary adenomas are associated with decreased quality of life. DESIGN:We conduct...

journal_title：European journal of endocrinology

authors： Kars M,van der Klaauw AA,Onstein CS,Pereira AM,Romijn JA

更新日期：2007-08-01 00:00:00

abstract：OBJECTIVE:In polycystic ovary syndrome (PCOS), insulin resistance (IR) appears with high prevalence and represents the major cause of cardiometabolic complications. Lipin 1beta regulates lipid metabolism and augments insulin sensitivity. The impact of lipin 1beta expression in visceral and subcutaneous adipose tissue o...

journal_title：European journal of endocrinology

authors： Mlinar B,Pfeifer M,Vrtacnik-Bokal E,Jensterle M,Marc J

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:Late diagnosis hinders proper management of small intestine neuroendocrine carcinoma (SI-NEC) patients. The olfactory receptor, family 51, subfamily E, member 1 (OR51E1) has been reported as a potential novel SI-NEC marker, without protein expression recognition. Thus, we further studied whether the encoded p...

journal_title：European journal of endocrinology

authors： Cui T,Tsolakis AV,Li SC,Cunningham JL,Lind T,Öberg K,Giandomenico V

更新日期：2013-01-17 00:00:00

abstract：:The experimental model of chronic inhibition of nitric oxide (NO) production has proven to be a useful tool to study cardiovascular and renal lesions produced by this type of hypertension, which are similar to those found in human hypertension. It also offers a unique opportunity to study the interaction of NO with th...

journal_title：European journal of endocrinology

authors： Vargas F,Moreno JM,Wangensteen R,Rodríguez-Gómez I,García-Estañ J

更新日期：2007-01-01 00:00:00

abstract：OBJECTIVE:An inherited profile of genes related to the response to aggressive environmental factors such as viruses and chemicals may be related to an increased susceptibility to Graves' disease (GD). DESIGN AND METHODS:This prospective case-control study was designed to examine the relationship between human herpesvi...

journal_title：European journal of endocrinology

authors： Leite JL,Bufalo NE,Santos RB,Romaldini JH,Ward LS

更新日期：2010-02-01 00:00:00

abstract：:Evidence suggests that insulin resistance and hyperinsulinaemia are associated with ovarian hyperandrogenism and menstrual irregularities in polycystic ovary syndrome (PCOS). Sixteen obese women with PCOS on a weight-maintaining diet were studied before and after 6 months of therapy with the insulin-sensitizing antidi...

journal_title：European journal of endocrinology

authors： Diamanti-Kandarakis E,Kouli C,Tsianateli T,Bergiele A

更新日期：1998-03-01 00:00:00

abstract：:We measured serum tumour necrosis factor-alpha (TNF-alpha) as well as interleukin-1betta (IL-1beta) and GH concentrations in 15 children with isolated growth hormone deficiency (GHD), age range 5.1-13.9 years, before and 4 and 24h after the first GH injection (0.1 IU/kg s.c.). No differences were found in basal concen...

journal_title：European journal of endocrinology

authors： Bozzola M,De Amici M,Zecca M,Schimpff RM,Rapaport R

更新日期：1998-06-01 00:00:00

abstract：:There is increasing evidence that ovarian steroids inhibit vascular responsiveness to the neurohypophysial hormone vasopressin. The present study examined the recovery of the arterial blood pressure following a single (2 ml/100 g body weight) haemorrhage in ovariectomized (OVX) Brattleboro rats with hereditary hypotha...

journal_title：European journal of endocrinology

authors： Morrissey SE,Edwards TJ,Wilson KJ,Whitehead SA,Laycock JF

更新日期：1997-03-01 00:00:00

abstract：:123I-metaiodobenzylguanidine (123I-MIBG) scintigraphy scanning is commonly used in the imaging of phaeochromocytoma (and paraganglioma) to confirm the site of disease and whether any spread has occurred. However, 123I-MIBG imaging is negative in 15% of cases of benign phaeochromocytoma and around 50% of cases of malig...

journal_title：European journal of endocrinology

authors： Mackenzie IS,Gurnell M,Balan KK,Simpson H,Chatterjee K,Brown MJ

更新日期：2007-10-01 00:00:00

abstract：OBJECTIVE:To analyse trends in diagnostic practices of thyroid diseases and to relate them to the increase in thyroid cancer incidence in France over time. DESIGN:From 1980 to 2000, a French retrospective multicentric (three endocrinology and three nuclear medicine centres) study of thyroid diseases was conducted on 2...

journal_title：European journal of endocrinology

authors： Leenhardt L,Bernier MO,Boin-Pineau MH,Conte Devolx B,Maréchaud R,Niccoli-Sire P,Nocaudie M,Orgiazzi J,Schlumberger M,Wémeau JL,Chérie-Challine L,De Vathaire F

更新日期：2004-02-01 00:00:00

abstract：OBJECTIVE:To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I). MATERIALS AND METHODS:Forty patients with clinical manifestations resembling APS I and with autoantibodies typical of this condition were screened for Norwegia...

journal_title：European journal of endocrinology

authors： Bøe AS,Knappskog PM,Myhre AG,Sørheim JI,Husebye ES

更新日期：2002-04-01 00:00:00

abstract：OBJECTIVE:Various adjuvant therapies have been introduced along with intensive insulin therapy in patients with recent onset type 1 diabetes. Nicotinamide (NA), administered at diagnosis of the disease, can have beneficial effects on the clinical remission rate, improve metabolic control and preserve or slightly increa...

journal_title：European journal of endocrinology

authors： Crinò A,Schiaffini R,Manfrini S,Mesturino C,Visalli N,Beretta Anguissola G,Suraci C,Pitocco D,Spera S,Corbi S,Matteoli MC,Patera IP,Manca Bitti ML,Bizzarri C,Pozzilli P,IMDIAB group.

更新日期：2004-05-01 00:00:00

abstract：:With the use of two central health registries in Sweden, the Hospital Discharge Registry and the Medical Birth Registry, we identified 100 infants born of women who had been hospitalized for diabetes insipidus. By checking the medical records of these women, 29 infants were identified whose mothers had diabetes insipi...

journal_title：European journal of endocrinology

authors： Källén BA,Carlsson SS,Bengtsson BK

更新日期：1995-02-01 00:00:00

abstract：BACKGROUND:Differences in circulating steroid hormone levels have been hypothesized to explain ethnic differences in steroid-related diseases. The aim of this study was to determine the serum levels of a wide panel of steroid hormones, both androgens and estrogens, in healthy middle-aged African-Caribbean and European ...

journal_title：European journal of endocrinology

authors： Giton F,Fiet J,Cornu JN,Cussenot O,Bélanger A,Urien S,Oliva A,Blanchet P,Multigner L

更新日期：2011-12-01 00:00:00

abstract：BACKGROUND:The risk of radiation-induced benign and malignant thyroid nodules is well known. OBJECTIVE:The aim of this study was to determine the occurrence of thyroid nodules and carcinomas after fractionated total body irradiation (TBI) preceding hematopoietic stem cell transplantation (HSCT) for malignant hematolog...

journal_title：European journal of endocrinology

authors： Vivanco M,Dalle JH,Alberti C,Lescoeur B,Yakouben K,Carel JC,Baruchel A,Léger J

更新日期：2012-08-01 00:00:00

abstract：:Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoos...

journal_title：European journal of endocrinology

authors： Aksglaede L,Juul A

更新日期：2013-03-15 00:00:00

abstract：BACKGROUND:Neutrophil gelatinase-associated lipocalin (NGAL) and matrix metalloproteinase-9 (MMP-9) have been considered as important mediators of vascular remodeling and plaque instability. The formation of a complex with NGAL and MMP-9 is crucial for atherotic plaque erosion and thrombus formation. In women with poly...

journal_title：European journal of endocrinology

authors： Diamanti-Kandarakis E,Livadas S,Kandarakis SA,Margeli A,Papassotiriou I

更新日期：2008-04-01 00:00:00

abstract：OBJECTIVE:Clinical presentation of pituitary adenomas frequently involves pain, particularly headache, due to structural and functional properties of the tumour. Our aim was to investigate the clinical characteristics of pain in a large cohort of patients with pituitary disease. DESIGN:In a cross-sectional study, we a...

journal_title：European journal of endocrinology

authors： Dimopoulou C,Athanasoulia AP,Hanisch E,Held S,Sprenger T,Toelle TR,Roemmler-Zehrer J,Schopohl J,Stalla GK,Sievers C

更新日期：2014-11-01 00:00:00

abstract：OBJECTIVE:This open label, multicentre study was designed to evaluate the efficacy and tolerability of lanreotide Autogel (L-Autogel) in acromegalic patients over a 24-week period. The outcome of treatment with this new, long-acting, aqueous formulation of lanreotide was also compared with the patients' previous treatm...

journal_title：European journal of endocrinology

authors： Alexopoulou O,Abrams P,Verhelst J,Poppe K,Velkeniers B,Abs R,Maiter D

更新日期：2004-09-01 00:00:00

abstract：:Prostate growth is known to be controlled by steroids such as androgens and estradiol. For this reason steroids (estradiol, adrenal androgens) or steroid inhibitors are commonly used as palliative treatments for prostate carcinoma. In view of the pivotal role played by Ca2+ ions in cell proliferation, we decided to in...

journal_title：European journal of endocrinology

authors： Audy MC,Vacher P,Duly B

更新日期：1996-09-01 00:00:00