Abstract:
OBJECTIVE:Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including short stature and brachydactyly, termed Albright hereditary osteodystrophy (AHO). In affected kindreds, some members may have AHO but not hormone resistance; they are termed as pseudopseudohypoparathyroidism (PPHP). The molecular basis for the disorder is heterozygous inactivating mutation of the Gsalpha gene. In affected families, subjects with both PHP-Ia and PPHP have the same Gsalpha mutations. The skeletal features common to PPHP and PHP-Ia are presumably caused by tissue-specific Gsalpha haploinsufficiency. Other features that distinguish between PPHP and PHP-Ia, such as the multihormone resistance, are presumably caused by tissue-specific paternal imprinting of Gsalpha. This suggests that major differences in phenotype between PHP-Ia and PPHP point to specific tissues with Gsalpha imprinting. One such major difference may be cognitive function in PHP-Ia and PPHP. DESIGN:Description of a large family with PHP-Ia and PPHP. PATIENTS:Eleven affected subjects with PHP-Ia or PPHP in one family. MEASUREMENTS:Cognitive impairment (CI) was defined by a history of developmental delay, learning disability and the Wechsler intelligence scale. RESULTS:CI occurred only in the five PHP-Ia but not in the six PPHP subjects. Hypothyroidism which occurred in all PHP-Ia subjects was apparently not the cause of CI as it was mild, and was treated promptly. Analysis of additional Israeli cases, and the published cases from the literature, all with documented Gsalpha mutations, revealed that CI is prevalent in PHP-Ia [60 of 77 subjects (79%)] but not in PPHP [3 of 30 subjects (10%)] (P < 1 x 10(-6)). CONCLUSION:We suggest that Gsalpha is imprinted in the brain.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Mouallem M,Shaharabany M,Weintrob N,Shalitin S,Nagelberg N,Shapira H,Zadik Z,Farfel Zdoi
10.1111/j.1365-2265.2007.03025.xsubject
Has Abstractpub_date
2008-02-01 00:00:00pages
233-9issue
2eissn
0300-0664issn
1365-2265pii
CEN3025journal_volume
68pub_type
杂志文章abstract::Nutrition and growth during infancy are an emerging issue because of their potential link to metabolic health disorders in later life. Moreover, prolonged breast-feeding appears to be associated with a lower risk of obesity than formula feeding. Human milk is a source of various hormones and growth factors, namely adi...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2009.03585.x
更新日期:2009-12-01 00:00:00
abstract:OBJECTIVE:We examined the contributions of growth hormone (GH) and insulin-like growth factor-I (IGF-I) to insulin sensitivity and beta-cell function in acromegaly. DESIGN:A cross-sectional study was used with continuous infusion of glucose with model assessment to determine insulin sensitivity and beta-cell function....
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb02902.x
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVE:This study was designed in order to evaluate bone turnover with bone formation and resorption markers in hyperthyroidism and its possible relationship with serum cytokines interleukin 6 (IL-6) and tumour necrosis-alpha (TNF-alpha), levels of thyroid hormones and thyroid autoantibodies. DESIGN AND PATIENTS:Tw...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01578.x
更新日期:2002-07-01 00:00:00
abstract:OBJECTIVE:A relationship between the serotoninergic and the opiatergic system in the pathogenesis of head pain is supported by several data. This study was carried out to investigate the neuroendocrine effects of sumatriptan, a specific serotonin agonist used in the treatment of migraine, on hypothalamic-pituitary-adre...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1994.tb02470.x
更新日期:1994-02-01 00:00:00
abstract::We designed a systematic study of patients with Cushing's disease to compare the results of acute experiments with cyproheptadine, sodium valproate and bromocriptine with the results of chronic treatment with sodium valproate. In 13 patients the plasma cortisol response to single doses of 2.5 mg bromocriptine, 6 mg cy...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03621.x
更新日期:1986-12-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to review our long-term use of subcutaneous oestradiol (E2) implant therapy for the treatment of climacteric symptoms in post-menopausal women. On the grounds that the aim is to restore premenopausal serum E2 levels, our declared clinical policy is not to repeat implants even in the ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb02660.x
更新日期:1995-05-01 00:00:00
abstract::Current guidelines do not recommend the routine use of somatostatin analogue pretreatment prior to surgery in patients with growth hormone-secreting pituitary tumours. In theory, presurgical use of somatostatin analogues should improve metabolic control and reduce soft tissue swelling, leading to improved anaesthetic ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.12553
更新日期:2014-12-01 00:00:00
abstract:CONTEXT:Transient thelarche (TT), that is, the appearance, regression and subsequent reappearance of breast buds, is a frequent phenomenon, but little is known about pubertal transition in these girls. OBJECTIVE:To describe pubertal progression, growth, genotypes, reproductive hormones and growth factors in girls with...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14248
更新日期:2020-09-01 00:00:00
abstract::Twenty women with secondary hypogonadism and four normal women in the early follicular phase of the cycle were treated for 7 days with 10, 50 or 100 micrograms synthetic LHRH administered intramuscularly at 4 h intervals. Concentrations of pituitary and ovarian hormones in plasma were measured at intervals during the ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00737.x
更新日期:1983-07-01 00:00:00
abstract:OBJECTIVES:Papillary thyroid microcarcinoma (PTMC) has an excellent prognosis with an indolent disease course. However, some PTMCs have an aggressive course with lateral cervical lymph node (LCLN) metastasis or distant metastasis. This study aimed to evaluate the pre-operative features of PTMC associated with LCLN meta...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13322
更新日期:2017-06-01 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:OBJECTIVE:Serum testosterone concentrations are affected by factors unrelated to hypothalamo-pituitary-testicular axis pathology. We evaluated the impact of sociodemographic, lifestyle and medical factors, on serum testosterone and sex hormone-binding globulin (SHBG) in men aged 40-69 years. DESIGN:Cross-sectional ana...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14342
更新日期:2021-02-01 00:00:00
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 huma...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb00993.x
更新日期:1993-02-01 00:00:00
abstract::Computed tomography of the pituitary fossa was performed in 12 patients with primary hypothyroidism before and after thyroxine treatment. In three, herniation of the diaphragma sellae precluded accurate measurement of the density of the hypophysis. Eight of the remaining patients showed abnormally increased density of...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb02997.x
更新日期:1985-05-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to investigate the possibility of impaired lipolysis of triglyceride-rich lipoproteins in patients with abdominal visceral fat accumulation by assessing two major lipolytic enzymes in the plasma, lipoprotein lipase (LPL) and hepatic lipase (HL). DESIGN AND PATIENTS:A total of 3...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00485.x
更新日期:1998-04-01 00:00:00
abstract::In order to evaluate simultaneously in thyrotoxic subjects the relative contributions of insulin secretion, insulin-sensitivity (SI) and glucose-mediated (SG) glucose disposal to overall glucose tolerance, seven non-obese patients with thyrotoxicosis were studied by the minimal model analysis of the frequently sampled...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:
更新日期:1990-10-01 00:00:00
abstract::A modified short ACTH test for the detection of heterozygote carriers of 21-hydroxylase deficiency (21-OHD) was applied to twenty-one controls and fourteen parents of children with 21-OHD. The following modifications were introduced: (1) Endogenous ACTH was suppressed by dexamethasone administration prior to the test,...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb01372.x
更新日期:1980-06-01 00:00:00
abstract:OBJECTIVE:The insulin tolerance test (ITT) is contraindicated in a proportion of patients with suspected ACTH deficiency. The aim of this study was to investigate the diagnostic accuracy of the glucagon stress test (GST) compared with the overnight metyrapone test (OMT) in patients with contraindications to ITT. DESIG...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12043
更新日期:2013-05-01 00:00:00
abstract::Five patients with Bloom's syndrome aged from 2 8/12 to 27 years, all of whom had hypogonadism, were subjected to an i.v. LHRH test and two of them to an i.m. HCG test. There was increased responsiveness of plasma LH and FSH, indicating that the hypogonadism is primary in nature and of early development. The tubular e...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb02013.x
更新日期:1977-04-01 00:00:00
abstract:OBJECTIVE:The diagnosis of the nonclassical form of 21-hydroxylase (NC-21OH) deficiency, established before molecular studies, is based on basal 17OH-progesterone (17OH-P) values > 15 nmol/l or ACTH-stimulated 17OH-P values > 30 nmol/l. This disease is caused by mutations in the structural gene that can be grouped into...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2000.00995.x
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVE:To compare biochemical variables, renal function and calcium and vitamin D intakes in euparathyroid and hyperparathyroid patients with primary osteoporosis and osteopenia and describe the measures necessary to normalize serum PTH in the patients with secondary hyperparathyroidism. DESIGN AND PATIENTS:We revi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03261.x
更新日期:2008-12-01 00:00:00
abstract:OBJECTIVE:Women with a prior history of polycystic ovary syndrome (PCOS) have an increased risk of endometrial cancer (EC). AIM:To investigate whether the endometrium of women with PCOS possesses gene expression changes similar to those found in EC. DESIGN AND METHODS:Patients with EC, PCOS and control women unaffect...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13436
更新日期:2017-11-01 00:00:00
abstract::Sixteen consecutive cases of Cushing's disease were treated by radical transphenoidal hypophysectomy. Surgical removal was not possible in two cases. Of the other 14, there was total clinical and biochemical remission of the disease in 13 and partial remission in one. Some form of replacement therapy has been necessar...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00041.x
更新日期:1983-11-01 00:00:00
abstract::Myotonic dystrophy (MyD) is a common genetic neuromuscular disorder in which chromosome 19 gives rise to an abnormal expansion of CTG-trinucleotide repeats. MyD is a highly variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.0300-0664.2001.01452.x
更新日期:2002-02-01 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:The frequency and the degree of recovery of anterior pituitary hormone deficits in patients with macroprolactinoma responsive to cabergoline are not clear. Our aim was to evaluate pituitary function in these patients with particular reference to an assessment of the possible restoration of pituitary deficits....
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/cen.12124
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVE:We aimed to investigate the impact of a long-acting somatostatin analogue, octreotide, on glucose tolerance and on insulin sensitivity in acromegaly. DESIGN:We performed a non-randomized controlled trial. PATIENTS:Seven patients with active acromegaly were assessed before and during octreotide therapy given...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb01443.x
更新日期:1992-03-01 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:The effects of thiazide medication in patients with primary hyperparathyroidism (PHPT) have so far not been elucidated. The aim of this study was to analyse the extent to which the administration of thiazides may influence biochemical parameters and therefore the diagnosis of PHPT in a large cohort of patient...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13046
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:Abdominal visceral (VAT) and subcutaneous (SAT) adipose tissues contribute to obesity, but may have different cardiometabolic risk profiles. We examined and compared the associations of abdominal VAT and SAT with metabolic risk factors in a large cohort of Chinese adults. METHODS:This study was based on cros...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13013
更新日期:2016-07-01 00:00:00