Abstract:
OBJECTIVE:We explored the possibility of a genetic anomaly in the sex determining region of the Y chromosome, SRY gene, known to be equated to the testis determining region. PATIENTS:Four patients with bilateral congenital anorchia, absence of testicular tissue, elevated FSH and a lack of testosterone response to human chorionic gonadotrophin stimulation tests were studied. MEASUREMENTS:Amplification by polymerase chain reaction of the SRY gene and direct double stranded DNA sequencing were performed with the same primers. RESULTS:The expected 648 basepairs band of SRY was detected in the four DNA samples from patients with bilateral congenital anorchia. Direct sequencing did not show any difference with the previous published sequence. CONCLUSIONS:These data suggest that, in the four patients, bilateral congenital anorchia is not related to an anomaly of the opening reading frame sequence of the SRY gene.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Lobaccaro JM,Medlej R,Berta P,Belon C,Galifer RB,Guthmann JP,Chevalier C,Czernichow P,Dumas R,Sultan Cdoi
10.1111/j.1365-2265.1993.tb00993.xsubject
Has Abstractpub_date
1993-02-01 00:00:00pages
197-201issue
2eissn
0300-0664issn
1365-2265journal_volume
38pub_type
杂志文章abstract:CONTEXT:Endothelial progenitor cells (EPCs) are bone marrow-derived cells required for endothelial repair. Circulating EPC concentration is low in conditions characterized by endothelial dysfunction but their number can be increased by treatment with phosphodiesterase-5 (PDE5) inhibitors. EPCs are also reduced in hypog...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03507.x
更新日期:2009-09-01 00:00:00
abstract::Prospective observational studies uniformly link vitamin D deficiency with the incidence of type 2 diabetes mellitus (T2DM), yet trials supplementing participants at risk of T2DM with vitamin D to reduce progression to T2DM have yielded inconsistent results. Inconsistencies between supplementation trials may be due to...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.12567
更新日期:2014-12-01 00:00:00
abstract:OBJECTIVE:Polymorphisms in the thyroid transcription factor forkhead factor E1 (FOXE1) gene have been implicated in the genetic susceptibility to differentiated thyroid cancer, but little is known about their effect on tumour characteristics. The objective of this study was to determine the contribution of the FOXE1 po...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13166
更新日期:2017-02-01 00:00:00
abstract:OBJECTIVE:Epidemiological studies on the cardiovascular risk of progestagen-only contraceptives are rare. With the present study we aimed to investigate the effect of the low-dose etonogestrel-releasing contraceptive implant Implanon on cardiovascular risk factors, including markers of inflammation. DESIGN:Longitudina...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.03046.x
更新日期:2008-03-01 00:00:00
abstract:OBJECTIVES:To examine quality of life (QoL) measured by a utility-weighted index in GH-deficient adults on GH replacement and analyse the impact of demographic and clinical characteristics on changes in utilities during treatment. DESIGN:Utilities for items in the QoL-Assessment of Growth Hormone Deficiency in Adults ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.03010.x
更新日期:2008-01-01 00:00:00
abstract::A new radioreceptor assay for insulin-like growth factor-II (IGF-II), using receptors on ovine placental membranes, is described. Half-maximal displacement of specifically bound radioiodinated human IGF-II tracer was seen at 1.0 ng/tube of unlabelled IGF-II. The cross-reactivity of IGF-I was 1%, and insulin was entire...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03267.x
更新日期:1986-03-01 00:00:00
abstract:BACKGROUND:Obestatin is a novel hormone that is encoded by the Ghrelin gene and produced in the gut. Ghrelin is profoundly orexogenic and adipogenic, increasing food intake and body weight. This new ghrelin-associated peptide behaves as a physiological opponent of ghrelin in rodent animals, but its pathophysiological r...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02776.x
更新日期:2007-04-01 00:00:00
abstract:OBJECTIVES:Associations between calcium-sensing receptor (CaSR) polymorphisms and serum calcium, PTH and bone mineral density (BMD) have been reported by six studies. However, three other studies have failed to detect such associations. We therefore further investigated three CaSR coding region polymorphisms (Ala986Ser...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02634.x
更新日期:2006-11-01 00:00:00
abstract::Sulpiride, a dopamine receptor blocker which raises prolactin, was given to six women with idiopathic amenorrhoea for 10 days and to eleven women with regular cycles for 3 to 6 months. The latter group developed galactorrhoea and amenorrhoea during treatment. Basal LH AND FSH concentrations showed no significant chang...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb01507.x
更新日期:1978-12-01 00:00:00
abstract::Only five cases of growth hormone secreting pituitary carcinoma have been documented. We present a 49-year-old West Indian male with grossly elevated plasma growth hormone (760-10,400 mU/l), and a large aggressive pituitary tumour that continued to grow despite repeated pituitary surgery, radiotherapy and medical ther...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.1992.tb02306.x
更新日期:1992-08-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to assess the relationship of different doses of a long-acting bromocriptine preparation (Parlodel LAR) to the degree and duration of PRL suppression. We also measured circulating bromocriptine levels and altered tolerability of the drug. DESIGN:A double-blind randomized study...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1992.tb01462.x
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVE:We investigated the clinical usefulness of thyroid blood-flow measurement in predicting relapse of Graves' disease (GD) in comparison with known risk factors for GD relapse. MEASUREMENT:Thyroid blood flow was measured in pulsed Doppler mode at the inferior thyroid artery (ITA), and the peak systolic velocity...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02397.x
更新日期:2005-12-01 00:00:00
abstract::Anti-Müllerian hormone (AMH) is a dimeric glycoprotein, a member of the transforming growth factor (TGF) superfamily. It is produced exclusively in the gonads and is involved in the regulation of follicular growth and development. In the ovary AMH is produced by the granulosa cells of early developing follicles and se...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2006.02533.x
更新日期:2006-06-01 00:00:00
abstract:OBJECTIVE:To compare ultrasonography and 99mTc thyroid scintigraphy for the aetiologic diagnosis of permanent congenital hypothyroidism (CH). STUDY DESIGN:Eighty-eight consecutive patients with CH were recruited at an endocrinology outpatient clinic and submitted to high-frequency ultrasonography and to 99mTc scintigr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01856.x
更新日期:2003-09-01 00:00:00
abstract:CONTEXT AND OBJECTIVE:Nonfunctioning pituitary adenomas (NFPAs) are the most common subtype of pituitary tumour. Hypopituitarism is observed in NFPAs due to tumour- or treatment-related factors and may increase mortality risk. Here, we analysed the associations of hypopituitarism, hormone replacement and mortality in a...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/cen.13141
更新日期:2016-11-01 00:00:00
abstract:OBJECTIVE:Cushing's syndrome (CS) is a well recognized cause of bone loss. Although many previous studies have shown decreased bone mineral density (BMD) in the lumbar spina and proximal femur of patients with endogenous CS, so far, the data estimating BMD in their peripheral skeleton are sparse. The aim of the present...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.01968.x
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:The purpose was to investigate whether the function of the pinealocytes is changed in patients with disturbed metabolic rate or in subjects with marked obesity. DESIGN:Venous blood was sampled every second hour between 1800 and 0800 h, and urine collected between 2200 and 0700 h. PATIENTS:Eight patients wit...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1991.tb03497.x
更新日期:1991-07-01 00:00:00
abstract:OBJECTIVE:The 2017 revised Bethesda System for Reporting Thyroid Cytopathology (BSRTC) included new malignancy rates for each category as well as new management recommendations. Here, we evaluate the malignancy rate and test performance for BSRTC categories in a middle-sized institution outside the United States (US). ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14341
更新日期:2020-09-27 00:00:00
abstract:BACKGROUND:Nonclassical congenital adrenal hyperplasia (NC-CAH) is caused by mutations of the CYP21A2 gene. The clinical manifestations and hormonal derangements of NC-CAH are quite variable. OBJECTIVES:(i) To define the phenotype and its relation to genotype according to gender and age and (ii) to evaluate the validi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12543
更新日期:2015-04-01 00:00:00
abstract:OBJECTIVES:To optimize the indications for treating girls with idiopathic central precocious puberty with GnRH analogues, since outcomes may vary. DESIGN:Comparison of adult heights with the data at initial evaluation and the target heights. PATIENTS:Group 1 patients (n = 43) were treated with GnRH analogue from 7.9 ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01488.x
更新日期:2002-03-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:It has been well documented that treatment of chronic hepatitis B and C infection with interferon alpha (IFN-alpha) can lead to the induction of thyroid autoantibodies and hypothyroidism. Thyrotoxicosis, however, is less frequently observed and less well characterized. PATIENTS AND METHODS:We ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01553.x
更新日期:2002-06-01 00:00:00
abstract::The effects of equivalent doses of two inhibitors of the 3-beta-hydroxy steroid dehydrogenase enzyme system--WIN 24540 (trilostane) and WIN 32729--on the secretion of progesterone in early human pregnancy are described. Patients and controls less than 12 weeks pregnant were given a single dose of either drug and the r...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00027.x
更新日期:1983-10-01 00:00:00
abstract:CONTEXT:Glucokinase (GCK) phosphorylates and thereby "traps" glucose in cells, thus serving as a gatekeeper for cellular glucose metabolism, particularly in hepatocytes and pancreatic beta cells. In humans, activating GCK mutations cause familial hyperinsulinaemic hypoglycaemia (GCK-HH), leading to keen interest in the...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12517
更新日期:2014-12-01 00:00:00
abstract::The nature of the thyroid disorder presented by patients with normal T4 and T3 but blunted TSH response to TRH has not been clarified. In this study, we compared thyroid function tests in 16 such patients with those of 14 controls and 10 hyperthyroid patients. Basal total T4, free T4, total T3, iodine uptake and chole...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03612.x
更新日期:1986-11-01 00:00:00
abstract:OBJECTIVE:Glucocorticoid excess is commonly related to neuropsychiatric and neurological disorders, with memory impairment typically found among these disorders. The objective of this study is to offer a clinical profile of memory deficits resulting from exposure to chronic stress-level elevations of endogenous glucoco...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03355.x
更新日期:2009-02-01 00:00:00
abstract::Plasma glucagon response to an arginine infusion was studied in children and adolescents belonging to the following groups: (I) twenty-two controls; (II) six subjects with delayed insulin peak during oral GTT; (III) ten diabetics on diet and/or oral therapy; (IV) six newly diagnosed uncompensated diabetics; and (V) ei...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1975.tb01558.x
更新日期:1975-09-01 00:00:00
abstract::Clinical observations and serial determinations of serum thyroglobulin (Tg) were made in five patients with acute haemorrhage into the thyroid gland. Fever, local pain and acceleration of erythrocyte sedimentation rate were minimal or were not observed, and serum T4 and T3 were normal. Although all patients showed an ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb00076.x
更新日期:1984-02-01 00:00:00
abstract:OBJECTIVE:Reviewing the clinical outcomes of a large kindred with a RET p.Gly533Cys mutation, 10 years after the first description of this kindred, has provided an important set of clinical data for healthcare decision-making. DESIGN AND PATIENTS:We identified 728 RET533 Brazilian relatives, spread out over 7 generati...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12264
更新日期:2014-02-01 00:00:00
abstract:OBJECTIVE:To study circulating adiponectin concentrations in relation to diabetes duration and endogenous insulin secretion in patients with type 1 diabetes. PATIENTS:Patients with haemoglobin A1c (HbA1c) < 6% (reference range 3.6-5.4%) were selected for the study. Twenty-two men and 24 women [age 41.3 +/- 13.8 years ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02666.x
更新日期:2006-12-01 00:00:00
abstract::Total and free thyroid hormones were measured in a group of asymptomatic subjects with high circulating TSH concentrations and a previous history of radioiodine therapy. Subjects in the high TSH group all fell within the normal range for measurements of total T4, total T3 and T4/TBG ratio. Concentrations of free T4 or...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb00100.x
更新日期:1984-05-01 00:00:00