Abstract:
OBJECTIVE:Androgen insensitivity syndromes (AIS) in subjects with 46, XY karyotype and normal or even elevated androgen blood levels are characterized by various aberrations in male differentiation and virilization. AIS is often accompanied by a broad spectrum of abnormal binding characteristics of the androgen receptor (AR). In order to investigate the correlation between the degree of virilization defect and the type of androgen binding abnormalities and/or the nature of the mutation in the AR gene, we determined androgen binding characteristics of the AR protein and the sequence of the AR gene in clinically and biochemically well characterized patients with various degrees of androgen resistance. DESIGN AND PATIENTS:The activity of 5 alpha-reductase and the binding of androgen to its receptor (KD-values, Bmax, thermolability) were determined in genital skin fibroblasts from 20 patients with various degrees of defects in virilization (2 CAIS, complete AIS; 18 PAIS, partial AIS patients). The AR gene of these 20 subjects was characterized by PCR-SSCP analysis. In case of aberrant electrophoretic mobility the corresponding exon was sequenced. RESULTS:The 2 patients with CAIS and 7 with PAIS showed a mutation in the AR gene. In two, the mutation was in the DNA binding domain, and in all others in the ligand binding domain. In 11 patients with severe virilization defects no abnormal behaviour was detected in the PCR-SSCP. Transcriptional activation studies of two mutant ARs revealed that an approximately tenfold higher androgen concentration (methyltrienolone) is necessary to achieve maximal response as compared to the wild type AR. CONCLUSIONS:There is no obvious relation between the degree of androgen resistance and the binding parameters of the AR and/or the nature of mutation in the AR gene. Androgen insensitivity syndrome can occur despite normal androgen binding and presumably non-mutated AR genes. Even if there is abnormal binding of androgen and/or a mutation in the AR gene there is no clear-cut relationship between these parameters and the degree of virilization defects. Thus, in a proportion of patients, neither the determination of binding parameters of the AR nor the detection of mutations in the AR gene are sufficient to understand the mechanisms underlying the androgen insensitivity syndrome.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Weidemann W,Linck B,Haupt H,Mentrup B,Romalo G,Stockklauser K,Brinkmann AO,Schweikert HU,Spindler KDdoi
10.1046/j.1365-2265.1996.8600869.xsubject
Has Abstractpub_date
1996-12-01 00:00:00pages
733-9issue
6eissn
0300-0664issn
1365-2265journal_volume
45pub_type
杂志文章abstract:OBJECTIVE:The incidence of thyroid cancer is increasing in several countries. The aim was to investigate trends in the incidence and mortality of thyroid cancer in Scotland, where thyroid cancer is relatively uncommon, between 1960 and 2002. DESIGN:Descriptive epidemiological study. METHODS:Thyroid cancer registratio...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02187.x
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVES:To investigate the risk of pregnancy complications in women with and without polycystic ovary syndrome after consideration of lifestyle factors. DESIGN:Prospective cohort. PATIENTS AND MEASUREMENTS:Participants (n = 5628) were apparently healthy nulliparous women with singleton pregnancies from the Screeni...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13954
更新日期:2019-06-01 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: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: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::Recombinant human TSH (rhTSH) has revolutionized the care of patients with differentiated thyroid cancer. Since its approval for clinical use in 2001 in Europe (1998 in the USA), rhTSH has greatly enhanced the surveillance of these patients by allowing the avoidance of hypothyroidism for TSH stimulation. Previously, a...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2004.02025.x
更新日期:2004-08-01 00:00:00
abstract:OBJECTIVE:Antithyroidal drugs (ATD) are used in the management of Graves' disease either as primary therapy for several months while awaiting remission of the disease or as pretreatment for several weeks prior to definitive radioactive iodine therapy (RAI). We have reported previously that pretreatment with propylthiou...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.2741075.x
更新日期:1997-10-01 00:00:00
abstract::The effect of glucocorticoid excess on insulin disappearance from plasma was examined in eight normal men during cortisone treatment (50 mg orally twice daily for 4 d) and in the absence of any medication (control) in random order. Constant infusion of insulin (1-5 mU/kg/min) was used to achieve different levels of st...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1987.tb00818.x
更新日期:1987-05-01 00:00:00
abstract:OBJECTIVE:Over 1% of the UK population is receiving thyroid hormone replacement with l-thyroxine (T4). However, many patients complain of persistent lethargy and related symptoms on T4 even with normal TSH levels. To date there has been no large study to determine whether this is related to thyroxine replacement or coi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01654.x
更新日期:2002-11-01 00:00:00
abstract::Long-term bromocriptine treatment was discontinued in thirty-seven women with hyperprolactinaemic amenorrhoea. After cessation of therapy thirty of the thirty-seven women became hyperprolactinaemic again with amenorrhoea or anovulatory bleeding. Seven of the women continued to have regular ovulatory menstruation but o...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb03175.x
更新日期:1982-06-01 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::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:OBJECTIVE:The aim of this study was to compare the metabolic effects of GH administered subcutaneously either once or twice daily. The actions of GH might depend upon a pulsatile pattern of serum GH. Pulsatile and continuous intravenous delivery of GH, however, induce similar short-term metabolic effects in GH deficien...
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.tb02554.x
更新日期:1994-09-01 00:00:00
abstract:OBJECTIVE:To compare the relative utility of GH secretion via pharmacological stimulation, overnight serial sampling, IGF-I levels and auxological variables as predictors of change in height standard deviation score (deltaHt SDS) during GH treatment. DESIGN:A multicentre observational study. PATIENTS:Prepubertal chil...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1046/j.1365-2265.2003.01701.x
更新日期:2003-02-01 00:00:00
abstract::Pituitary-dependent Cushing's syndrome is rare in childhood. Two patients are reported who had unsuccessful transsphenoidal microadenomectomy and therefore underwent pituitary radiotherapy. In both patients there was progressive normalization of hypothalamo-pituitary-adrenal function and at 8 and 10 years after radiot...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00385.x
更新日期:1998-05-01 00:00:00
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::We describe a 40-year-old male with acromegaly, multiple and recurrent cutaneous myxomas, spotty cutaneous pigmentation, a mammary myxoma, a large-cell calcifying Sertoli cell tumour of the testis, and an unusual calcifying pigmented neuroectodermal tumour. He presented a combination of clinical and histological featu...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03605.x
更新日期:1986-11-01 00:00:00
abstract::Twenty-two cases of male pseudohermaphroditism with persistence of Müllerian duct derivatives were reviewed. In 12 cases of mixed gonadal dysgenesis and five cases of dysgenetic male pseudohermaphroditism, testosterone-dependent steps of sex differentiation were also impaired, and testicular dysgenesis was prominent, ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb02987.x
更新日期:1983-08-01 00:00:00
abstract:OBJECTIVE:Postablation whole-body scintigraphy, which is performed 5-7 days after administration of ablation activity of radioactive iodine-131 (131 I) in patients with thyroid cancer, is considered a routine procedure for remnant ablation and a useful tool for disease staging. However, the relationship of pre-ablation...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13158
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:Polycystic ovary syndrome (PCOS) is a heterogeneous disorder characterized by chronic anovulation, hyperandrogenism, polycystic ovary morphology (PCOM) and metabolic disturbances including insulin resistance and type 2 diabetes mellitus. Although insulin resistance could be associated with PCOM, r...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13380
更新日期:2017-10-01 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:To document current practices in the approach to low testosterone in older men. Given that recommendations are based on low-level evidence, we hypothesized that there would be a wide variability in clinical practice patterns. DESIGN:Members of all major endocrine and andrological societies were invited to pa...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12594
更新日期:2015-02-01 00:00:00
abstract::Thirty-three samples of follicular fluid (FF) were collected from 14 patients with the polycystic ovary (PCO) syndrome and matched for FF-volume with small follicles collected from subjects with normal ovaries. The median (range) FF concentration of insulin-like growth factor 1 (IGF1) in the group with PCO, 0.42 (0.13...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00879.x
更新日期:1990-04-01 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::Nine acromegalic patients were treated by the somatostatin analogue SMS 201-995 octreotide (Sandostatin (octreotide), Sandoz, Basle, Switzerland] 250 micrograms/day in 4 divided s.c. injections (50 + 50 + 50 + 100 micrograms) for 1 month, 250 micrograms/24 has continuous s.c. infusions for another month and thereafter...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1989.tb00266.x
更新日期:1989-06-01 00:00:00
abstract::In order to investigate the endocrine requirements for induction of follicle maturation, ovulation and luteal function we have measured plasma LH and FSH concentrations in 109 cycles induced by treatment with LHRH in 25 women with amenorrhoea of diverse aetiology. The major clinical and endocrine subgroupings were pol...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01122.x
更新日期:1985-12-01 00:00:00
abstract:OBJECTIVE:The body adiposity index (BAI) has been recently proposed as an alternative index to body mass index (BMI) and waist circumference (WC) to evaluate adiposity in adults, with special focus on its ability to discriminate gender specificities on adiposity. Endothelial dysfunction, circulating endothelial cells (...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12195
更新日期:2013-11-01 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:The use of thyrotropin (TSH) in the initial assessment of thyroid nodules is inefficient and leads to unnecessary assessment costs. We compared the total costs of thyroid nodule assessment with or without the use of TSH in the initial assessment. METHODS:A total of 1808 patients with thyroid nodules received...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13178
更新日期:2017-02-01 00:00:00
abstract::The purpose of this study was to assess the normal relationship between plasma ACTH and cortisol during insulin induced hypoglycaemia. Twenty-six healthy persons were studied. Peak plasma concentration and the amounts of ACTH and cortisol secreted during hypoglycaemia were compared. There was no significant correlatio...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb02222.x
更新日期:1978-10-01 00:00:00