Abstract:
OBJECTIVE:Germline mutations in the HRPT2 gene are associated with the hereditary hyperparathyroidism-jaw tumour syndrome (HPT-JT) and a subset of familial isolated hyperparathyroidism (FIHP). Somatic HRPT2 mutations are detected in sporadic parathyroid carcinomas and less frequently in cystic adenomas. The purpose of this study was to investigate the underlying HRPT2 defect in a young patient with symptomatic hyperparathyroidism due to an apparently sporadic parathyroid adenoma with cystic features. DESIGN AND METHODS:HRPT2 mutations in the patient's genomic and parathyroid tumour DNA were screened by PCR-based sequencing. Tumour loss of heterozygosity (LOH) at the HRPT2 locus was assessed with microsatellite markers. A large germline HRPT2 deletion was investigated by real-time quantitative PCR analysis (qPCR). Genomic DNA losses were also appraised by chromosomal comparative genomic hybridization (cCGH). RESULTS:No germline HRPT2 point mutation was detected by direct sequencing. A novel hemizygous HRPT2 somatic mutation (c.32delA) was identified in the tumour. Apparent constitutional homozygosity for HRPT2 flanking microsatellite markers, and absence of LOH at a distal marker, suggested a large germline deletion. Gene dose mapping by qPCR unveiled a de novo deletion of the whole HRPT2 gene and adjacent loci (<9·3 Mb in size). cCGH confirmed germline DNA loss involving the HRPT2 locus. CONCLUSIONS:We report the first large germline deletion of the HRPT2 gene, which was not detectable by conventional PCR-based sequencing methods. This finding emphasizes that qPCR should be implemented in HRPT2 molecular analysis, which may improve genetic assessment and clinical management of patients with FIHP and HPT-JT.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Domingues R,Tomaz RA,Martins C,Nunes C,Bugalho MJ,Cavaco BMdoi
10.1111/j.1365-2265.2011.04184.xsubject
Has Abstractpub_date
2012-01-01 00:00:00pages
33-8issue
1eissn
0300-0664issn
1365-2265journal_volume
76pub_type
杂志文章abstract::Two female patients with functioning adrenocortical carcinomas had plasma ACTH detectable by RIA at presentation. In both patients there was evidence for biological activity of ACTH. There was no evidence for an ectopic source of ACTH, nor for a pituitary tumour. Urinary steroid analysis showed patterns of multiple ho...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb00249.x
更新日期:1988-07-01 00:00:00
abstract:OBJECTIVE:Leptin serves as a hormonal signal linking food intake and energy expenditure to fat mass. As significant effects of testosterone administration on body composition and adipose tissue have been described recently, we examined a possible association between serum levels of leptin and testosterone which has not...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.2681067.x
更新日期:1997-08-01 00:00:00
abstract::Malignant insulinomas are very rare endocrine tumours with a variable clinical course. We describe a 51-year-old man who had two large insulinomas resected from the body of the pancreas and 19 years later, having again become symptomatic, was found to have hepatic metastases. Medical treatment with diazoxide and octre...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01506.x
更新日期:2002-04-01 00:00:00
abstract::The effect of clomiphene citrate on the occurrence and timing of the endogenous LH surge in superovulated cycles is unclear. To study further this event, five normally ovulating women were treated with clomiphene citrate 100 mg per day in two different cycles, that is, for 5 days in one cycle (days 2 to 6, CC-5) and f...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1988.tb03700.x
更新日期:1988-11-01 00:00:00
abstract:OBJECTIVE:Pubertal gynaecomastia is a very common condition. Although the underlying aetiology is poorly understood, it is generally accepted that excess of oestrogens and deficit of androgens are involved in the pathogenesis. Furthermore, adiposity as well as the GH/IGF-I axis may play a role. In this study, we elucid...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12323
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:Data in women regarding the role of OT in LH secretion during the LH surge are conflicting. As in previous studies blood samples for LH measurements were taken infrequently, we re-examined this matter in women with a fully characterized midcycle LH surge. DESIGN:Normal women were studied over two cycles. Whe...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03456.x
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Acromegalic patients have increased prevalence of colonic polyps. Development of hyperplastic polyps was related to suppressor of cytokine signalling (SOCS) 2 haploinsufficiency in animal models of acromegaly. OBJECTIVE AND PATIENTS:To evaluate whether variations in SOCS2 expression in the colonic mucosa of...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03431.x
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVE:Human GH treatment of short children who had intrauterine growth retardation (IUGR) results in a highly variable growth response. The object of this study was to test the hypothesis that differences in responsiveness to exogenously administered GH might reflect differences in endogenous GH secretion or sensit...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1996.732553.x
更新日期:1996-06-01 00:00:00
abstract:OBJECTIVE:To analyse the clinical and biochemical effects of metyrapone in the treatment of Cushing's syndrome. DESIGN:An evaluation of the standard clinical practice at one institution. PATIENTS:Ninety-one patients with Cushing's syndrome: 57 pituitary-dependent Cushing's disease, 10 adrenocortical adenomas, six adr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1991.tb03517.x
更新日期:1991-08-01 00:00:00
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: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:Relationship between adult growth hormone deficiency (AGHD) and increased cardiovascular disease risk is very well known in hypopituitary patients treated with conventional hormone replacement therapy other than growth hormone (GH) administration. Endothelial dysfunction, an early and reversible event in path...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02767.x
更新日期:2007-04-01 00:00:00
abstract:OBJECTIVE:Fracture risk in type 2 diabetes mellitus with insulin resistance is increased, despite relatively preserved bone mineral density (BMD). In this study, we investigated the relationship between insulin resistance and composite indices of femoral neck strength in Koreans. DESIGN:A population-based, cross-secti...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12958
更新日期:2016-02-01 00:00:00
abstract:OBJECTIVE:To assess the prevalence and progression of subclinical hypothyroidism in women with type 2 diabetes. DESIGN AND PATIENTS:Cross-sectional and longitudinal observational assessment of thyroid function in 420 adult females with type 2 diabetes randomly selected from participants in the community-based Fremantl...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02246.x
更新日期:2005-04-01 00:00:00
abstract:OBJECTIVE:The newly discovered vasoactive peptides, endothelin 1, 2 and 3, and their receptors are widely distributed in various non-vascular tissues. Recent studies have suggested the presence, as well as possible regulatory roles, of endothelins at several levels of the pituitary-gonadal axis. We determined the level...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb03932.x
更新日期:1994-03-01 00:00:00
abstract::Cardiac patients treated with the iodine-containing drug 'amiodarone' undergo a significant iodine overload which can last for months after the drug has been withdrawn. Some patients develop hyperthyroidism and others hypothyroidism. In the hyper- or hypothyroid patients, the indices of thyroid function are modified a...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb03569.x
更新日期:1978-07-01 00:00:00
abstract::Although vasomotor instability or hot flushes are a well-known occurrence in women with natural or artificially-induced menopause, they have not previously been described in children. We report three children in different stages of puberty who developed vasomotor instability following surgery involving the hypothalami...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00592.x
更新日期:1983-06-01 00:00:00
abstract:BACKGROUND:Whether subclinical hypothyroidism adversely impacts pregnancy outcomes is inconclusive, and limited data are available on the optimal TSH range in women planning pregnancy. OBJECTIVE:To investigate the association between maternal preconception TSH levels and pregnancy outcomes. DESIGN:Population-based co...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13329
更新日期:2017-06-01 00:00:00
abstract::There is evidence that the porcine TSH receptor contains essential disulphide bridge(s) which can be disrupted by dithiothreitol (DTT). The aim of the present study was to determine whether exposure of intact thyroid cells to DTT leads to altered thyroid stimulation. TSH-stimulated iodine organification in cultured po...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1987.tb00798.x
更新日期:1987-04-01 00:00:00
abstract::We have studied the effects of dopamine on the secretion of TSH and its subunits in vivo and in vitro. Four normal controls, seven patients with primary hypothyroidism, two patients with peripheral resistance to thyroid hormone (PRTH), and two patients with alpha-secreting pituitary tumours underwent a 3-h dopamine in...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb03211.x
更新日期:1983-03-01 00:00:00
abstract::The urine clearance of TRH after intravenous injection in man has been measured by radioimmunoassay. Between 4.4 percent and 10.7 percent of the dose was excreted within 90 min, the majority within 30 min. The TRH excreted was immunochemically and chromatographically indistinguishable from synthetic TRH and was inacti...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1975.tb01549.x
更新日期:1975-07-01 00:00:00
abstract::Changes in the excretion of urinary cyclic AMP, calcium and phosphate, and serum calcium, ionized calcium, and magnesium were studied after parathyroidectomy for primary hyperparathyroidism. Urinary cyclic AMP decreased rapidly and 8 of 11 patients had a significant reduction 1 h postoperatively, but changes in serum ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00581.x
更新日期:1983-04-01 00:00:00
abstract:CONTEXT:To study the prevalence of thyroid dysfunction in a very large unselected population. OBJECTIVE:To determine the prevalence of abnormal thyroid function and evaluate potential modulatory factors. DESIGN AND SETTING:The Estudio de Atención Primaria de Navarra, The APNA Study, is a cross-sectional study conduct...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13764
更新日期:2018-09-01 00:00:00
abstract:OBJECTIVES:Alterations in protein expression of histone deacetylase 2 (HDAC2) have been demonstrated in various neoplasms, and lack of nuclear expression of HDAC2 has previously been shown in some human and canine corticotroph adenomas. This study aimed to examine HDAC2 expression in a Norwegian cohort of corticotroph ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03805.x
更新日期:2010-08-01 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:Nonsurgical hypoparathyroidism (NS-HypoPT) and pseudohypoparathyroidism (PHP) are rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively. Only few studies on Quality of Life (QoL) among patients with Ns-HypoPT and PHP are available. We aimed to investigate the QoL among patients with Ns-Hyp...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13593
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:Genetic alterations in four oncogenes, namely RAS point mutations, RET rearrangements (RET/PTC), NTRK1 rearrangements (TRK) and BRAF point mutations have been identified in human papillary thyroid carcinomas (PTCs). These oncogenes act along the RET/PTC(TRK)-RAS-BRAF-MEK-MAPK kinase pathway, mediating a numbe...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02367.x
更新日期:2005-10-01 00:00:00
abstract::Millions of women are treated with hormone replacement therapy (HRT) for relief of menopausal symptoms, including vasomotor flushes and sweats for which oestrogen is uniquely and highly effective. Others may continue longer-term treatment in the hope that HRT will help to prevent chronic disease. The preservation of b...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2265.2003.01815.x
更新日期:2003-08-01 00:00:00
abstract:BACKGROUND:To improve the diagnostic sensitivity of PTH measurements, more data on the upper limit of the reference interval for PTH levels were requested at a recent international consensus conference. As PTH levels vary inversely with plasma 25-hydroxyvitamin D (25OHD) levels and as vitamin D insufficiency is widespr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03894.x
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:Nonuniformity in suppression of spermatogenesis induced by various hormones or hormone combinations has impeded the development of an effective hormonal male contraceptive. The basis for this heterogeneity in response remained unresolved to date; however, the presence of ethnic differences points to an involv...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01652.x
更新日期:2002-11-01 00:00:00