Abstract:
:We investigated the presence of mutations/polymorphisms in the FSH receptor (FSHR) gene and their association with phenotype in women with premature ovarian failure (POF) in southern Brazil. Clinical and hormonal variables were determined in 36 46,XX women with primary or secondary amenorrhea before the age of 40 yr, FSH >40 IU/l and ovarian failure. DNA was isolated from peripheral leukocytes. Exons 6, 7, 9, and 10 of the FSHR gene were analyzed by PCR, restriction enzyme analysis, denaturing gradient gel electrophoresis, and direct sequencing. No inactivating mutations were found. Exon 10 had two polymorphisms, Ala307Thr and Ser680Asn (allelic frequency: 52.9 and 35.7%, respectively), which were not related to FSH, LH or estradiol serum levels. Ovarian size and small ovarian follicles on transvaginal sonography were not associated with FSHR genetic variants. In contrast, the last menstruation occurred significantly earlier in patients with the Ala307Thr polymorphism (A: age=33.3+/-7.1 yr vs T: 28.6+/-11.4 yr, p=0.04). In conclusion, we did not identify inactivating mutations in exons 6, 7, 9, and 10 of the FSHR gene. A high frequency of two polymorphisms that are in linkage disequilibrium was found in exon 10 of the FSHR gene. The presence of the Ala307Thr polymorphism may be associated with a more precocious onset of clinical disease.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Vilodre LC,Kohek MB,Spritzer PMdoi
10.1007/BF03346407subject
Has Abstractpub_date
2008-06-01 00:00:00pages
552-7issue
6eissn
0391-4097issn
1720-8386pii
4642journal_volume
31pub_type
杂志文章abstract:BACKGROUND:Adipose tissue has emerged as an important endocrine regulator by secreting hormones referred to as adipokines. Recent studies showed that adipose tissue considerably responds to hypoxia. Although the impact of white adipose tissue on regulative processes is established, the importance of brown adipose tissu...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/7964
更新日期:2012-05-01 00:00:00
abstract::Preliminary hormonal studies in a 18-y old man with the clinical features of Cushing's syndrome showed inconclusive and conflicting results both in basal conditions and after metyrapone and dexamethasone administration. Therefore the possibility of a cyclical or acyclical fluctuation of adrenal hypersecretion was susp...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347163
更新日期:1987-02-01 00:00:00
abstract:UNLABELLED:The aim of this study was to assess the behaviour of insulin sensitivity and insulin resistance (IR) indexes in a group of obese adolescents with Type 2 diabetes mellitus (T2DM) in comparison to obese adolescents without diabetes and normal controls, moreover to compare these parameters with the cardiac auto...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346644
更新日期:2010-09-01 00:00:00
abstract:BACKGROUND:The significance of vitamin D deficiency in the incidence of bone fractures in children has been under investigated. Here, we aimed to associate serum 25-hydroxyvitamin D levels and fractures in Saudi children. MATERIALS AND METHODS:This cross-sectional study was conducted in 1022 Saudi children without fra...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-016-0496-7
更新日期:2016-10-01 00:00:00
abstract:BACKGROUND:Diabetes mellitus is frequently observed in patients with acromegaly. Current therapies for acromegaly may impact glucose regulation, influencing insulin sensitivity and secretion. The question whether these therapies modify control and progression of diabetes once present is still open. AIM:Aim of our stud...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/7685
更新日期:2012-02-01 00:00:00
abstract::The pathogenesis of human obesity is the result of dysregulation of the reciprocal relationship between food intake and energy expenditure (EE), which influences daily energy balance and ultimately leads to weight gain. According to principles of energy homeostasis, a relatively lower EE in a setting of energy balance...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/s40618-017-0732-9
更新日期:2018-01-01 00:00:00
abstract::In obesity there is a clear reduction of both spontaneous and stimulated GH secretion. Furthermore, in obese patients the somatotrope responsiveness to provocative stimulation is selectively refractory to the inhibitory effect of glucose load. It has been hypothesized that hyperinsulinism of obese patients could play ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346919
更新日期:1997-11-01 00:00:00
abstract::A strong relationship was previously described between the nocturnal oscillations of plasma renin activity (PRA) and the sleep cycles, with levels of PRA that increase during non rapid eye movement sleep and decrease during rapid eye movement sleep. This study was designed to determine whether ritanserin, a 5-hydroxyt...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF03349016
更新日期:1996-09-01 00:00:00
abstract:OBJECTIVE:We previously demonstrated that patients suffering from moderate hypothyroidism were at increased risk of thrombosis contrasting with the bleeding tendency of those presenting severe hypothyroidism. The latter state is associated with hemostatic anomalies including von Willebrand type 1 disease and increased ...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03347217
更新日期:2005-05-01 00:00:00
abstract::To characterize natriuretic peptide receptor (NPr) gene expression in human tissues, we cloned portions of the cDNAs codifying for NPr with guanylyl cyclase activity (NPr-A and NPr-B) and without guanylyl cyclase activity (NPr-C). Total RNA was extracted from samples taken at surgery from normal human tissues. NPr-A a...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349021
更新日期:1996-10-01 00:00:00
abstract::In six patients suffering from amyotrophic lateral sclerosis we evaluated changes of T4, T3, TSH, PRL, and GH during treatment by continuous iv infusion of TRH for at least 15 days. No clinical improvement was detected. A significant rise of thyroid hormone levels was observed, as well as an upward trend of basal TSH ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349584
更新日期:1990-09-01 00:00:00
abstract:PURPOSE:Testosterone replacement therapy (TRT) is recommended for the treatment of most cases of male hypogonadism. Transdermal testosterone (T) gels are commonly used in clinical practice; however, there is little evidence concerning how to monitor dosage to bring and maintain serum T levels in the normal physiologic ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01082-x
更新日期:2019-12-01 00:00:00
abstract::In addition to growth hormone (GH), sex hormones are important determinants of body composition. Aging is accompanied by a decrease in free testosterone levels and, as BMI as well as fat mass increase with age (with a redistribution of body fat), whereas muscle mass decreases, it is tempting to attribute a causal role...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:1999-01-01 00:00:00
abstract::Central hypothyroidism (CH) is a rare cause of hypothyroidism characterized by a defect of thyroid hormone production due to an insufficient TSH stimulation. CH can be congenital in the case of genetic defects or acquired in the case of lesions affecting either pituitary or hypothalamus. Diagnosis is usually made on a...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2008-09-01 00:00:00
abstract::Reportedly, the responsiveness of somatotrope cells to GHRH is reduced in elderly humans but it is totally restored by arginine (ARG) which likely acts by inhibiting hypothalamic release of somatostatin. As this effect was observed after infusion of high doses of the amino acid, in this study, we compared the effect o...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03347695
更新日期:1994-02-01 00:00:00
abstract:BACKGROUND:Immune dysfunction is very common in diabetes mellitus (DM). However, there is no evidence whether such immune dysfunction can influence the development of DM, especially the development of diabetic nephropathy (DN). AIM:To investigate the influence of absence of T cells on DN. MATERIALS AND METHODS:Balb/c...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/8962
更新日期:2013-12-01 00:00:00
abstract:PURPOSE:Cold exposure activates the hypothalamus-pituitary-thyroid (HPT) axis, response blunted by previous acute stress or corticosterone administration. Chronic stressors can decrease serum T3 concentration, and thyrotropin-releasing hormone (Trh) expression in the paraventricular nucleus (PVN), but impact on the res...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-020-01328-z
更新日期:2020-07-30 00:00:00
abstract:BACKGROUND:Results of circulating Ghrelin levels in hyper- or hypothyroidism are conflicting and only overt thyroid dysfunction has been evaluated. AIM:To evaluate in a large number of patients with thyroid disfunction whether: a) hyper- and hypothyroidism (clinical or subclinical) are associated with variations in bo...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345683
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To investigate the prevalence of cardiovascular risk factors in patients with primary hyperparathyroidism (PHPT) and to determine if they are gender specific. METHODS:This was a retrospective case control study. Three hundred and sixty-three men and women with PHPT and 363 age-, sex-, and body mass index (BM...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/7861
更新日期:2012-06-01 00:00:00
abstract::A longitudinal study was carried out in an area of endemic goiter of north-eastern Sicily. Three different surveys (in 1977, 1983 and 1994) evaluated the epidemiological prevalence of goiter in schoolchildren of the endemic area (towns of Bronte, Troina and Maniaci) in comparison to an iodine sufficient control area (...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349031
更新日期:1996-10-01 00:00:00
abstract::A case of malignant islet-cell tumor with oncocytic features occurring in a 54-year-old woman with symptoms of organic hypoglycemia is reported. The tumor was composed of ribbons of cells arranged in an endocrine pattern. The cytoplasm of these cells was eosinophilic and finely granular. Ultrastructurally, the cells c...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03348712
更新日期:1992-03-01 00:00:00
abstract:BACKGROUND:Protein tyrosine phosphatase (PTP)- 1B, encoded by the PTPN1 gene, negatively regulates insulin signaling by dephosphorylating the phosphotyrosine residues of the insulin receptor kinase activation segment. Several rare single nucleotide polymorphisms (SNP) have been linked to diseases accompanying insulin r...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346629
更新日期:2010-07-01 00:00:00
abstract:PURPOSE:Although men with spinal cord injury (SCI) exhibit a prostate volume significantly smaller compared to age-matched able-bodied men, the independent association of lower prostate volume with its putative determinants has never been analyzed in this population. This study was designed to identify variables indepe...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-020-01243-3
更新日期:2020-11-01 00:00:00
abstract::The distribution of goiter prevalence in schoolchildren (no.=13,984, age 6-14 yr), the neonatal TSH results obtained from the congenital hypothyroidism screening program and the urinary iodine excretion values (no.=284) were employed for the assessment of iodine deficiency in Calabria, a Southern Italy region. Data we...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343991
更新日期:2002-03-01 00:00:00
abstract::D-aspartic acid (D-Asp), aromatase enzyme activity and the putative D-Asp involvement on aromatase induction have been studied in the testis of mature boars. The peroxidase-antiperoxidase and the indirect immunofluorescence methods, applied to cryostat and paraffin sections, were used to evaluate D-Asp and aromatase d...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03344087
更新日期:2006-02-01 00:00:00
abstract::The role of thyroid hormones in a short loop feedback in the thyroid is controversial. This process was studied in dog thyroid slices stimulated by TSH, carbachol and phorbol esters. Incubation of thyroid slices with T3 and T4 for 1 hour inhibited the subsequent stimulation of glucose oxidation induced by carbachol an...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347936
更新日期:1991-11-01 00:00:00
abstract::The aim of this study was to investigate the effects of age, duration of diabetes, sex and ICA (Islet cell cytoplasmic antibody) on beta-cell reserves and to develop a model within the first 2 years of Type 1 diabetes. Beta-cell reserve is evaluated as fasting (FCp) and 1 mg i.v. glucagon stimulated C-peptide (SCp) le...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03344073
更新日期:2002-12-01 00:00:00
abstract::To evaluate the effect of weight loss and diet therapy on plasma sex hormone behavior in male obesity, 9 men with a BMI of 43.4 +/- 6.3 participated in an 8-week semistarvation program [whose energy content ranged from 320 to 500 k calorie/day (proteins 44 to 60 g and carbohydrates 54 to 81 g per day)] followed by a t...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350136
更新日期:1988-03-01 00:00:00
abstract::Fifty seven male patients either complaining of poor sexual development, gynecomastia or dwarfism and signs of sexual infantilism were studied. Plasma prolactin (PRL) and testosterone (T) were estimated in all patients while 33 of them were also subjected to full pituitary function tests. Twelve of the latter had an e...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346965
更新日期:1986-12-01 00:00:00
abstract::An abnormal regulation of the hypothalamic-pituitary-adrenal (HPA) axis is associated with risk factors for cardiovascular disease and Type 2 diabetes mellitus. The objective of this study was to examine if morning saliva cortisols show similar associations. Twenty-eight men, all 53 yr of age, delivered during an ordi...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347017
更新日期:2003-07-01 00:00:00