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 generations. We performed clinical examination, biochemical and imaging analyses in the proband and in 103 carriers. MEASUREMENT AND RESULTS:The proband has been followed without evidence of structural disease in the last 10 years but with elevated calcitonin. The clinical and surgical features of 60 thyroidectomized RET533 relatives were also described. Forty-six patients had MTC (21-72 years), and 11 patients had C-cell hyperplasia (CCH) (5-42 years). Twelve MTC patients with lymph node metastases had a tumour size of 0·7-2·8 cm. Calcitonin level and CEA were correlated with disease stage, and none of the patients presented with an altered PTH or metanephrine. A 63-year-old woman developed pheochromocytoma and breast cancer. Two other RET533 relatives developed lung squamous cell carcinoma and melanoma. CONCLUSIONS:A vast clinical variability in RET533 presentation was observed, ranging from only an elevated calcitonin level (3%) to local metastatic disease (25%). Many individuals were cured (42%) and the majority had controlled chronic disease (56%), reinforcing the need for individualized ongoing risk stratification assessment. The importance of this update relies on the fact that it allows us to delineate the natural history of RET 533 MEN2A 10 years after its first description.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Signorini PS,França MI,Camacho CP,Lindsey SC,Valente FO,Kasamatsu TS,Machado AL,Salim CP,Delcelo R,Hoff AO,Cerutti JM,Dias-da-Silva MR,Maciel RMdoi
10.1111/cen.12264subject
Has Abstractpub_date
2014-02-01 00:00:00pages
235-45issue
2eissn
0300-0664issn
1365-2265journal_volume
80pub_type
杂志文章abstract::Pituitary homogenates were prepared from patients undergoing pituitary ablation for breast or prostatic carcinoma (controls) and from patients with either PRL- and GH-secreting pituitary adenomas or from patients with 'functionless' pituitary tumours. The principal subcellular organelles, plasma membrane, lysosomes, m...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb01389.x
更新日期:1984-11-01 00:00:00
abstract:BACKGROUND:Increased frequencies of adrenal tumours and testicular adrenal rest tumours (TART) have been reported in patients with 21-hydroxylase deficiency (21OHD). OBJECTIVE:Patients, methods and design From a cross-sectional population-based study of 101 adult Norwegian patients with 21OHD, sixty-two participated i...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2011.04151.x
更新日期:2011-12-01 00:00:00
abstract:OBJECTIVE:Strategies to limit the final height of tall children have centred on the use of high doses of sex steroids to advance skeletal maturation. This limits therapy to the peripubertal years whereas the greatest gain in height is in the prepubertal years. Prepubertal growth is largely GH dependent and previous wor...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1995.tb02670.x
更新日期:1995-05-01 00:00:00
abstract::We describe here two patients with hypothyroidism due to pituitary-hypothalamic disease in whom basal thyrotrophin (TSH) levels measured by radioimmunoassay (RIA) were elevated yet when measured by a cytochemical bioassay (CBA) were found to be normal. This finding and the absence of the normal rise of thyroid hormone...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb02174.x
更新日期:1978-05-01 00:00:00
abstract::Objective African-Americans have been shown to have low prevalence of hypothyroidism. Brazil has a high ethnic admixture allowing further exploration into whether environmental factors can explain the ethnic differences. Design A survey, representative of the population of Rio de Janeiro, a large metropolitan city in ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02816.x
更新日期:2007-06-01 00:00:00
abstract::As long ago as 1970, it was proposed that Ca2+ can act as a 'second messenger' like cAMP (Rasmussen & Nagata, 1979). The recognition that calmodulin is a major Ca2+ binding protein in non-muscle cells has prompted the suggestion that calmodulin may serve an analogous role for Ca2+ to that served by protein kinase for ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.1985.tb00216.x
更新日期:1985-08-01 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:BACKGROUND AND OBJECTIVE:Previous studies suggesting effects of metyrapone on extra-adrenal corticosteroid metabolism have involved significant alterations in plasma cortisol. We have therefore studied effects of metyrapone on urinary excretion of steroids in a group of patients treated concurrently with hydrocortisone...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb02930.x
更新日期:1995-11-01 00:00:00
abstract:OBJECTIVE:The aetiology of non-insulin dependent diabetes is unknown, but defective insulin secretion is a feature. The disease also has a strong genetic basis and first-degree relatives of patients have an increased risk of future diabetes. To investigate whether beta-cell dysfunction is an early feature of the diseas...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb01873.x
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVE:Although abnormalities of the humoral immune system, such as increased immunoglobulin production, are known in sarcoidosis, the relationship between sarcoidosis and autoimmune disorders in uncertain. We studied the incidence of thyroid autoantibodies and the prevalence of Hashimoto's thyroiditis in patients w...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1630976.x
更新日期:1997-04-01 00:00:00
abstract::The uterine cross-sectional area (UXA) of women with polycystic (PCO) or multifollicular ovaries (MFO) is significantly larger and smaller, respectively, than those of normal women during the early-mid-follicular phase of the menstrual cycle. In the present study the distribution of oestradiol in plasma from normal wo...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1987.tb00813.x
更新日期:1987-05-01 00:00:00
abstract:OBJECTIVE:The present study was performed to characterize the molecular heterogeneity of serum FSH in normal males and to investigate the possible influence of testosterone on serum FSH in androgen-deficient men before and during testosterone administration. DESIGN AND PATIENTS:Serum samples were taken at 10-minute in...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb01770.x
更新日期:1993-08-01 00:00:00
abstract:OBJECTIVE:Vasopressin (AVP) is reported to be an important factor for regulating cortisol secretion in patients with Cushing's syndrome due to ACTH-independent macronodular adrenocortical hyperplasia (AIMAH). Recently, there have been several case reports of subclinical Cushing's syndrome due to AIMAH, in which the pat...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01963.x
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:Hyperinsulinaemia has a role in the development of hyperandrogenism and polycystic ovary syndrome in women of normal weight. Polycystic ovaries are common in women with bulimia nervosa and this study aimed to determine whether women with bulimia nervosa are insulin resistant and to examine the relation betwee...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb02617.x
更新日期:1995-10-01 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: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:OBJECTIVE:Centripetal obesity is associated with systemic low-grade inflammation and an increased cardiovascular risk. Patients in long-term remission of Cushing's syndrome (CS) report persisting abdominal fat accumulation. However, this has previously not been adequately objectified. Therefore, we investigated the adi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12639
更新日期:2015-02-01 00:00:00
abstract:OBJECTIVE:TSH suppression therapy has been reported to be effective in some cases of papillary carcinoma of the thyroid. However, there has been little information regarding the status of expression of TSH-R mRNA in papillary carcinomas. Therefore, we examined the expression of TSH receptor (TSH-R) mRNA in thyroid tumo...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:
更新日期:1996-03-01 00:00:00
abstract:OBJECTIVE:Use of the antithyroid drugs (ATDs) thiamazole (MMI) and propylthiouracil (PTU) is associated with a high frequency of side effects. When patients experience side effects with one (the 1st) ATD, it is usually discontinued and another is administered (the 2nd ATD). We investigated side effects associated with ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2265.2012.04365.x
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVE:Familial isolated primary hyperparathyroidism (FIHP) is a rare hereditary disorder. We present four patients from a single family with FIHP, and genetic analysis of their parathyroid adenomas and parathyroid carcinoma. DESIGN:DNA was extracted from tumours resected at surgery. Tumours were examined for loss ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00354.x
更新日期:1998-01-01 00:00:00
abstract:BACKGROUND:GH and IGF-I affect cardiac structure and performance. In the general population, low IGF-I has been associated with higher prevalence of ischaemic heart disease and mortality. Both in GH deficiency (GHD) and excess life expectancy has been reported to be reduced because of cardiovascular disease. OBJECTIVE...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2008.03292.x
更新日期:2008-09-01 00:00:00
abstract:OBJECTIVE:Whether nonalcoholic fatty liver disease (NAFLD) can predict atherosclerosis in obese patients remains unclear. The aim of our study was to investigate the usefulness of NAFLD and other cardiometabolic parameters in predicting subclinical atherosclerosis in obese patients. DESIGN, PATIENTS AND MEASUREMENTS:W...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12698
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:To study the effects of long-term combined continuous oral hormone replacement therapy (HRT) on vascular function in healthy postmenopausal women. BACKGROUND:The cardiovascular effects of HRT are controversial. Improvement in vascular function is a proposed mechanism of oestrogen action but there are no long...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.2001.01382.x
更新日期:2001-11-01 00:00:00
abstract:OBJECTIVE:Non-tumour causes of hyperprolactinaemia, including prolactin-elevating drugs, must be excluded. There is a general view that such drugs are unlikely to raise serum PRL above 3000 mU/I, but the literature is confusing. We report 8 patients receiving treatment with neuroleptic drugs, whose serum PRL concentrat...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00569.x
更新日期:1998-10-01 00:00:00
abstract:BACKGROUND:Postsurgical regrowth or recurrence of nonfunctioning pituitary adenomas (NFAs) is not uncommon and often requires further surgery or radiotherapy (DXT). Routine postoperative DXT increases the incidence of hypopituitarism, which is associated with increased morbidity and mortality. Identification of genetic...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02046.x
更新日期:2004-07-01 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::Prolactin secretion and biological activity have been investigated in 20 females with persistent idiopathic galactorrhoea who had normal resting serum prolactin levels at presentation. Results were compared with those in 34 normal controls. Hyperprolactinaemia, which was persistent in one and intermittent in the other...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb03003.x
更新日期:1985-05-01 00:00:00
abstract:OBJECTIVE:Phaeochromocytomas (PHEO) and functional paragangliomas (PGLs) are catecholamine-secreting neuroendocrine tumours. Although most PHEO/PGLs are benign, 10-35% present as (or develop into) malignant tumours with a poor prognosis. Overexpression of ERBB2 (v-erb-b2 erythroblastic leukaemia viral oncogene homologu...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04388.x
更新日期:2012-09-01 00:00:00
abstract:INTRODUCTION:The rates of sensitivity and specificity of fine needle aspiration biopsy (FNAB) for the diagnosis of thyroid malignancy differ considerably among various reported series. These values are influenced by three factors: (a) whether only clearly positive and negative results are considered, or whether the com...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00847.x
更新日期:1999-10-01 00:00:00
abstract:OBJECTIVE:We assessed the relative risk of both serum TSH and antithyroid antibody concentrations with regard to progression of thyroid failure and studied the lipid profiles of individuals with elevated TSH levels. DESIGN, PATIENTS AND MEASUREMENTS:In a randomly selected group of 427 women aged 40-60 (mean 55) years ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02366.x
更新日期:1993-09-01 00:00:00