Abstract：
:We report the case of a male infant who at 10 days of life presented with salt-wasting. Congenital adrenal hyperplasia was excluded on the basis of normal 17 alpha-hydroxy-progesterone plasma levels evaluated before the onset of steroid replacement therapy. The incidental finding of hypertriglyceridaemia led us to suspect the condition of complex glycerol kinase deficiency which was confirmed by the direct measurement of serum glycerol (7.16 mmol/l, normal range 0.02-0.21). Serum creatine kinase was markedly elevated (5963 U/l, normal range 37-290). High resolution cytogenetic investigation of peripheral blood showed a small interstitial deletion within Xp21. The same deletion was found in the patient's mother although not in his maternal grandmother. We present this case in order to emphasize the necessity of evaluating plasma triglycerides in all neonatal males with salt-wasting which can not be explained by congenital adrenal hyperplasia. Plasma triglycerides measurement carried out using a routine clinical method which measures glycerol released after lipolysis facilitates early recognition of this syndrome, and enables appropriate therapy and subsequent genetic counselling.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Balducci R,Municchi G,Toscano V,Mangiantini A,Sabatini R,Caiola S,Tedeschi B,Orlandi L,Boscherini Bdoi
10.1111/j.1365-2265.1995.tb02655.xsubject
Has Abstractpub_date
1995-04-01 00:00:00pages
437-9issue
4eissn
0300-0664issn
1365-2265journal_volume
42pub_type
杂志文章abstract：:The demonstration that the incretin hormone glucagon-like peptide 1 can improve glycaemic control in patients with type 2 diabetes has led to the rapid development during the last decade of promising new classes of agent for the management of type 2 diabetes. These agents possess a range of physiological effects that ...
journal_title：Clinical endocrinology
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2265.2008.03396.x
更新日期：2009-03-01 00:00:00
abstract：OBJECTIVE:The prevalence of clinically silent corticotroph macroadenomas is unknown. Our aim was to determine the prevalence of clinically silent corticotroph macroadenomas among all pituitary macroadenomas. DESIGN:Patients scheduled to have transsphenoidal surgery for any sellar mass were prospectively evaluated clin...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/cen.13146
更新日期：2016-12-01 00:00:00
abstract：OBJECTIVE:Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is characterized by high androgen levels, ambiguous genitalia or premature pubarche, increased height velocity and skeletal maturation. Considering the possibility of changes in the IGF system components depending on the state of c...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.2004.02075.x
更新日期：2004-07-01 00:00:00
abstract：:A receptor assay for TSH receptor antibodies is described in which unextracted serum, detergent solubilised TSH receptors and 125I-labelled TSH are used. The assay was rapid and reproducible with coefficients of inter-assay variation of 12.3%, 2.1 and 2.6% at mean inhibition of TSH binding values of 11, 53, and 79 res...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.1984.tb00102.x
更新日期：1984-05-01 00:00:00
abstract：:Two main types of RET/PTC oncogene, named RET/PTC-1 and 3, occur in papillary thyroid carcinomas especially in those from Belarus children after the Chernobyl nuclear accident. Several variants of RET/PTC-3 have also been found, having different break points with respect to the classical RET/PTC-3. To our knowledge, n...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1046/j.1365-2265.2000.01046.x
更新日期：2000-07-01 00:00:00
abstract：OBJECTIVE:The thyroid suppression test is still used in some centres as an adjunt in the diagnosis of autonomous functioning thyroid nodules. With the purpose of minimizing the disadvantages of the original T3 suppression test, we have evaluated the efficacy of a method using L-thyroxine as TSH suppression agent and [9...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1046/j.1365-2265.2000.00898.x
更新日期：2000-04-01 00:00:00
abstract：OBJECTIVE:Appropriate replacement doses of glucocorticoid are important to determine in primary and secondary adrenal deficiency in children, both to avoid the risks of hypoglycaemia and adrenal crisis associated with undertreatment, and to avoid growth suppression and reduced final height potential associated with ste...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1046/j.1365-2265.1997.2101025.x
更新日期：1997-07-01 00:00:00
abstract：:In the present study, effects of domperidone, a peripheral dopamine blocking agent, on prolactin and growth hormone were examined to determine whether dopamine regulation of these hormones involved structures external to the blood-brain barrier. A clearcut elevation in prolactin was produced by domperidone. GH respons...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.1981.tb00666.x
更新日期：1981-09-01 00:00:00
abstract：:Twenty-seven patients starting regular haemodialysis were treated with a 1 microgram daily dose of 1alpha-hydroxyvitamin D3 and concurrent aluminium hydroxide therapy to prevent hyperphosphataemia. There was an increase in plasma calcium, but no significant improvement in plasma alkaline phosphatase activity or parath...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.1977.tb03372.x
更新日期：1977-12-01 00:00:00
abstract：OBJECTIVE:Previous studies have suggested that hypothyroidism affects both systolic and diastolic cardiac function. We have applied equilibrium radionuclide angiography to the study of heart function at rest in hypothyroidism. DESIGN:A prospective study, evaluating cardiac function at rest in primary hypothyroidism. ...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1046/j.1365-2265.1999.00662.x
更新日期：1999-04-01 00:00:00
abstract：OBJECTIVE:To determine serum concentrations, intra-individual variability and impact of age-related co-morbidities on serum testosterone (T), dihydrotestosterone (DHT), estradiol (E(2)) and estrone (E(1)) in older men. DESIGN:Observational, repeated measures study. PARTICIPANTS:Men (n = 325) with 40 years and older s...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.2012.04432.x
更新日期：2012-11-01 00:00:00
abstract：OBJECTIVE:To assess the capacity of thyroid follicular cells to function as antigen presenting cells, we have examined their ability to stimulate allogeneic T cells. DESIGN:Thyroid follicular cells were pretreated with interferon-gamma or phorbol myristate acetate, washed thoroughly, and their capacity to induce allog...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.1992.tb02322.x
更新日期：1992-09-01 00:00:00
abstract：OBJECTIVE:Hypercortisolism is associated with impaired glucose tolerance and insulin resistance. For many years hydrocortisone 30 mg was the standard total daily replacement dose in adult hypopituitarism. The use of this conventional dose has now been shown to result in mild biochemical hypercortisolism and might contr...
journal_title：Clinical endocrinology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1046/j.0300-0664.2001.01447.x
更新日期：2002-02-01 00:00:00
abstract：BACKGROUND:Recent evidence has shown that oxidative stress may play a role in the pathogenesis of autoimmune diseases, and this is an issue of considerable research interest in the field of infiltrative ophthalmopathy. Therefore, we evaluated both the relationship between Graves' ophthalmopathy (GO) and serum levels of...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.2010.03904.x
更新日期：2011-01-01 00:00:00
abstract：:This study deals with serum prolactin concentrations during various conditions in the early puerperium in an attempt to investigate some characteristics of the mechanisms responsible for the regulation of the lactotropes. In nursing, in non-nursing, non-medicated and in non-nursing, bromocriptine-treated women prolact...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.1981.tb00650.x
更新日期：1981-08-01 00:00:00
abstract：OBJECTIVE:The objective of this study was to evaluate symptoms of thyrotoxicosis, bone turnover, bone mineral density (BMD) and occult atrial fibrillation (AF) in women ≥65 years with mild endogenous subclinical hyperthyroidism (SCH). DESIGN:Cross-sectional and case-control study. PATIENTS:Signs and symptoms of thyro...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/cen.12979
更新日期：2016-07-01 00:00:00
abstract：OBJECTIVE:To test the hypothesis that patients with hyperprolactinaemia due to biologically inactive macroprolactin will not show the characteristically increased dopaminergic inhibition of TSH release seen in patients with microprolactinomas secreting biologically active monomeric PRL. DESIGN:Comparison of the TSH an...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1046/j.1365-2265.2003.01887.x
更新日期：2003-11-01 00:00:00
abstract：OBJECTIVE:The relationship between growth hormone (GH) therapy and malignancy, including leukaemias, remains controversial. In order to study this possible relationship further, we have investigated whether GH treatment induces chromosomal abnormalities in peripheral blood lymphocytes. DESIGN:Open, prospective study i...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1046/j.1365-2265.1997.2731074.x
更新日期：1997-09-01 00:00:00
abstract：OBJECTIVE:Hyperandrogenism is one of the characteristic features of the polycystic ovary syndrome (PCOS). Androgens are important for bone mass. Studies on bone mineral density (BMD) and fractures in postmenopausal women with PCOS are lacking. The aim of this study was to investigate whether postmenopausal women with P...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.2012.04378.x
更新日期：2012-08-01 00:00:00
abstract：:The growth hormone (GH) and prolactin (PRL) responses to metoclopramide (MCP) were compared to those with arginine and insulin-induced hypoglycaemia in eight children. While a significant rise in GH release after stimulation with arginine and insulin occurred in all subjects (P less than 0.05), no significant increase...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.1980.tb01380.x
更新日期：1980-06-01 00:00:00
abstract：:The fundamental question in assessing an older man with a slightly low total testosterone and normal gonadotrophin levels is to determine whether or not he has clinical hypogonadism. Hypogonadism is defined as a clinical syndrome complex, which comprises both symptoms as well as biochemical testosterone deficiency. As...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.2009.03737.x
更新日期：2010-05-01 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：BACKGROUND:To define the symptoms, signs and treatment outcomes in a population of older patients with Cushing's disease (CD). METHODS:We analysed the clinical presentation and treatment outcomes in 45 CD patients older than 60 years, in comparison with 90 CD patients younger than 60, and a control group of 45 older p...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/cen.13799
更新日期：2018-10-01 00:00:00
abstract：OBJECTIVE:We aimed to evaluate and contrast the hypothalamo-pituitary-adrenal (HPA) response to direct current (DC) cardioversion and electroconvulsive therapy (ECT). SUBJECTS:Six male subjects (mean age 61.2 years, range 46-74) with chronic atrial fibrillation were selected for cardioversion. Six subjects with depres...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1046/j.1365-2265.1996.642464.x
更新日期：1996-02-01 00:00:00
abstract：OBJECTIVES:Macroprolactinomas are pituitary tumours that can be managed with dopamine agonists (DA), surgery and radiotherapy. We aimed to assess the outcomes of these treatment modalities. DESIGN:Retrospective case-note study of patients managed in a single tertiary referral centre. PATIENTS:One hundred patients (68...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/cen.12418
更新日期：2014-07-01 00:00:00
abstract：:Seven synthetic analogues of somatostatin helped clarify structural requirements for suppression of growth hormone secretion in rats. Size of the ring is not critical; deletions of serine-13, lysine-4 or asparagine-5 result in peptides which retain an appreciable fraction of the activity. The analogue des-Ala1, Gly2, ...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.1976.tb03835.x
更新日期：1976-01-01 00:00:00
abstract：OBJECTIVE:To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosomal dominant disorders...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.2006.02460.x
更新日期：2006-03-01 00:00:00
abstract：:The antigenicity of HCG was tested in twenty-three young healthy men receiving two different HCG preparations (A and B). Each subject received 5000 i.u. HCG intramuscularly daily for three consecutive days, followed by another course, 3 weeks later, of 5000 i.u. HCG injections daily for 3 days. Two of the fifteen subj...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1111/j.1365-2265.1982.tb02762.x
更新日期：1982-05-01 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:Genotype and phenotype heterogeneity in patients with GH insensitivity syndrome suggests that partial defects exist in the GH receptor. Children with partial GH resistance would be expected to have short stature, elevated GH levels and relatively low levels of IGF-I and IGFBP-3. Provocation tests of the GH-IG...
journal_title：Clinical endocrinology
pub_type： 杂志文章
doi：10.1046/j.1365-2265.1998.00407.x
更新日期：1998-06-01 00:00:00
