Abstract:
:We report the clinical history and results of endocrine investigations in two brothers born to consanguineous parents, who presented with hypokalemia and arterial hypertension when they were aged 2 and 6 years. The hormonal serum assay results, including extremely low values for aldosterone and plasma renin activity, favored the existence of apparent mineralocorticoid excess. A diagnosis of 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) deficiency was made, based on assays of the hydrogenated urinary metabolites of cortisol and cortisone, as well as of corticosterone and dehydrocorticosterone. Indeed we found a very low rate of urinary elimination of cortisone metabolites: tetrahydrogenated cortisone was reduced to between 0.10 and 30 mumol/24 h, which is 15-100 times lower than the normal rate; hexahydrogenated cortolones alpha and beta were found to be 7- to 20-fold lower than normal levels; and the 11-keto-17-ketosteroid derivatives of cortisone were also reduced. Urinary elimination of the cortisol-reduced metabolites 5 beta- and 5 alpha-tetrahydrogenated cortisol were slightly reduced or normal. These results argue in favor of a deficit in the enzyme 11 beta-HSD, which oxidizes cortisol into cortisone. A moderate defect in the conversion of cortisol into 5 beta-THF compared to normal conversion into 5 alpha-THF was also found. With respect to corticosterone metabolism, we demonstrated the presence of a defect in the oxidation of that steroid into dehydrocorticosterone, also due to the deficit in 11 beta-HSD. Arterial hypertension and hypokalemia were corrected by treatment with dexamethasone, concomitantly with correction of the low aldosterone and plasma renin activity levels. On the other hand, during this treatment, urinary concentrations of the metabolites of cortisol, cortisone and corticosterone were only moderately affected.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Gourmelen M,Saint-Jacques I,Morineau G,Soliman H,Julien R,Fiet Jdoi
10.1530/eje.0.1350238subject
Has Abstractpub_date
1996-08-01 00:00:00pages
238-44issue
2eissn
0804-4643issn
1479-683Xjournal_volume
135pub_type
杂志文章,评审abstract:OBJECTIVE:To assess the LH response of the pituitary gland to GnRH stimulation in healthy women with a mutant beta-subunit (Trp8 to Arg8 and Ile15 to Thr15). DESIGN:Clinical study. PATIENTS:We studied 40 healthy non-pregnant Japanese women of known zygosity for the LH beta-subunit gene (3 homozygotes for the mutant g...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1430375
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:Elevated levels of circulating fibroblast growth factor 21 (FGF21) are commonly encountered in type 2 diabetes, dyslipidemia, and non-alcoholic fatty liver disease, all of which share exaggerated postprandial lipemia as a common proatherogenic feature. How FGF21 responds to an oral fat load in man is unknown...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0783
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND:Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins. This leads to accumulation of plant-derived cholesterol-like molecules in blood and tissues. CASE:We describe a family of Bangladesh origin, where three siblings (t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0222
更新日期:2007-08-01 00:00:00
abstract:BACKGROUND:Ki-67 labeling index (LI) is currently regarded as a useful prognostic marker of pituitary adenoma (PA) clinical behavior, although its relevance as a reliable clinical indicator is far from being universally accepted, since both validations and criticisms are found in the literature. Minichromosome maintena...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-15-0586
更新日期:2016-03-01 00:00:00
abstract:OBJECTIVE:Leptin secretion is reduced by low temperatures in experimental animals, and this effect has been explained as an adaptive mechanism to cold environments. This study investigated the in vitro effects of cold exposure on human white adipose tissue. DESIGN:To understand whether the low temperature action is a ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420195
更新日期:2000-02-01 00:00:00
abstract::The aim of this review was to examine the evidence for age-related changes of the hypothalamic-pituitary-adrenal (HPA) axis in both physiological and pathological aging, on the basis of the many data in the literature, as well as of our personal findings. A statistically significant circadian rhythmicity of serum cort...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1440319
更新日期:2001-04-01 00:00:00
abstract::To know the role of sex hormone-binding globulin (SHBG) in the intracellular steroidal actions in human ovarian cancers, the expression of SHBG mRNA as a substitute for intracellular SHBG expression was investigated in normal ovarian tissues and ovarian tumors. In the present study, we used competitive reverse transcr...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1330327
更新日期:1995-09-01 00:00:00
abstract:BACKGROUND:Conventional glucocorticoid (GC) replacement for patients with adrenal insufficiency (AI) is inadequate. Patients with AI continue to have increased mortality and morbidity and compromised quality of life despite treatment and monitoring. OBJECTIVES:i) To review current management of AI and the unmet medica...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-13-0450
更新日期:2013-10-21 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy and safety of coadministered lanreotide Autogel (LA; 120 mg/month) and pegvisomant (40-120 mg/week) in acromegaly. DESIGN:This is a 28-week, multicenter, open-label, single-arm sequential study. METHODS:Patients (n=92) biochemically uncontrolled, on somatostatin analogs (SSAs) or ...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/EJE-10-0867
更新日期:2011-03-01 00:00:00
abstract:OBJECTIVE:The uncoupling protein 2 (UCP2) uncouples respiration from the oxidative phosphorylation in most cell types, predominantly in white fat and skeletal muscle. Since a decreased basal metabolic rate (BMR) would increase the susceptibility to weight gain, genetic alterations in the UCP2 gene could contribute to t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1390217
更新日期:1998-08-01 00:00:00
abstract::Autoimmune thyroid disease is the archetype for organ-specific autoimmune disorders. Progress in treating these disorders lies in improvements of our understanding of the predisposing factors responsible, the mechanisms responsible for progression of disease, and the interaction between thyroid antigens and the immune...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1480001
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVE:The evidence that stress may provoke Graves' hyperthyroidism in genetically susceptible subjects is substantial. Whether exposure to stress is related to the severity of thyrotoxicosis has not been studied. Advancing age is associated with not only less severe Graves' hyperthyroidism but also self-reported st...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-08-0573
更新日期:2009-02-01 00:00:00
abstract::The strategy for diagnosis of primary aldosteronism (PA) in the hypertensive population includes firstly a screening step, based on the measurement of plasma aldosterone-to-renin ratio (ARR), a test which must have high sensitivity, and secondly a confirmatory step based on the demonstration of excessive aldosterone p...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-18-0704
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVE:A polymorphism near the promoter region of the IGF-I gene has been associated with serum IGF-I levels, body height and birth weight. In this study, we investigated whether this polymorphism is associated with body composition in young healthy subjects in two cohorts of different generations. DESIGN:Observati...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02101
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:Slow-release (SR) lanreotide is a long-acting somatostatin analog that has been developed in order to overcome the inconvenience of multiple daily subcutaneous injections of octreotide, required for metabolic control in acromegaly. Lanreotide SR has been found to be well tolerated and effective in reducing GH...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1530/eje.0.1430577
更新日期:2000-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of the growth factor activin A on the secretion of prolactin (PRL) and GH in cultured GH3 cells. METHODS:The concentrations of PRL and GH secreted from GH3 cells cultured in media with and without activin A were measured by RIA, and the expression of PRL mRNA and GH mRNA were analyzed ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420506
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVE:Multiple types of voltage-activated Ca(2+) channels (T, L, N, P, Q and R type) coordinate a variety of Ca(2+)-dependent processes in neurons and neuroendocrine cells. In insulinoma cell lines as well as in endocrine tissues, the non-L-type alpha1E (Ca(v)2.3) subunit is expressed as the tissue-specific splice ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460881
更新日期:2002-06-01 00:00:00
abstract:OBJECTIVE:Adrenocorticotropic hormone (ACTH) is the primary secretagogue stimulating secretion of adrenal androgens (AA). Yet, genetic and environmental factors are assumed to play a determining role in the regulation of their biosynthesis and thus might explain the high variability of AA levels. Here we investigate th...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02015
更新日期:2005-11-01 00:00:00
abstract:OBJECTIVE:To test further the hypothesis that autosomal dominant neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the vasopressin-neurophysin II (AVP-NPII) gene that exert a dominant negative effect by producing a precursor that misfolds, accumulates and eventually destroys the neuros...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460649
更新日期:2002-05-01 00:00:00
abstract:OBJECTIVE:KLF7 encodes Krüppel-like factor (KLF) 7, a member of the KLF family of transcription factors, initially shown to play important roles in cellular development and differentiation, and reported to be specifically involved in adipogenesis. Several single nucleotide polymorphisms (SNPs) have been identified in K...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0688
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVE:Limited data exist concerning the presence of polycystic ovary syndrome (PCOS) in premenopausal women with nonalcoholic fatty liver disease (NAFLD). We aimed to investigate the prevalence of PCOS in overweight and obese premenopausal women with NAFLD. DESIGN:Prospective, observational, and cross-sectional st...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-15-0567
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVES:The French Acromegaly Registry records data of acromegalic patients' since 1992 in French, Belgian (Liège), and Swiss (Lausanne) centers. We studied the prevalence of diabetes in this population looking for risk factors. Patients from one of the centers (Reims) were then analyzed more thoroughly. METHODS:Th...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-10-1050
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVE:Transient neonatal hyperthyrotropinemia (TNH) is defined as a neonatal abnormality of thyroid function, which reverts to normal at re-examination after 2 weeks of life. The thyroid function of these infants has not been sufficiently studied in terms of the risk of developing persistent hyperthyrotropinemia (P...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-0907
更新日期:2015-04-01 00:00:00
abstract:Background:Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is caused by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII gene encoding the AVP preprohormone. Aim:To describe the clinical and molecular features of Italian unrelated families with central diabetes insipidus. ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0299
更新日期:2019-09-01 00:00:00
abstract::In 2006, two major society-sponsored guidelines and one major consensus statement for thyroid diagnosis and management were published by: the American Association of Clinical Endocrinologists/Associazione Medici Endocrinologi (AACE/AME); the American Thyroid Association (ATA); and the European Thyroid Association (ETA...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-08-0135
更新日期:2008-11-01 00:00:00
abstract:DESIGN:While androgens and estrogens control glucocorticoid secretion in animal models, how the sex-steroid milieu determines cortisol secretion in humans is less clear. To address this issue, cortisol was measured in archival sera obtained at 10-min intervals for 5 h in 42 healthy men administered double placebo, plac...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-10-0149
更新日期:2010-06-01 00:00:00
abstract::Sex steroids are important for the growth and maintenance of both the female and the male skeleton. However, the relative contribution of androgens versus estrogens in the regulation of the male skeleton is unclear. Experiments using mice with inactivated sex steroid receptors demonstrated that both activation of the ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-09-0118
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVES:Women with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances, in particular from insulin resistance. Accumulating evidence suggests that vitamin D deficiency may contribute to the development of the metabolic syndrome (MS). Hence, the aim of our study was to investigate the assoc...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0432
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVE:To determine if uterine and ovarian measurements can significantly distinguish between precocious puberty (PP) and premature thelarche (PT) and whether ultrasound has any advantage over the gonadotropin-releasing hormone (GnRH) stimulation test. DESIGN:Prospective. METHODS:One hundred and three girls referr...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02151
更新日期:2006-06-01 00:00:00
abstract:OBJECTIVE:In type I diabetes mellitus, early markers of beta cell damage are needed in order to detect the infraclinical development of the disease. The reg protein may be a good candidate, as the reg gene has been proposed to play a role in the pancreatic beta cell destruction/regeneration process during diabetogenesi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1410368
更新日期:1999-10-01 00:00:00