Abstract:
:We report an 11-year-old boy with undermasculinized genitalia and an abnormally expanded CAG repeat length at exon 1 of the androgen receptor (AR) gene. He had microphallus and scrotal hypospadias with chordee, and underwent urethroplasty at 4 years of age. At 11 years of age, a gonadotropin releasing hormone (GnRH) test yielded a relatively high leutinizing hormone (LH) response (0.7-->20.4 IU/l) and a relatively low follicle-stimulating hormone (FSH) response (1.7-->4.8 IU/l), and an human chorionic gonadotropin (hCG) test showed sufficient responses of testosterone (0.7-->23.0 nmol/l) and dihydrotestosterone (0.38-->2.95 nmol/l). The CAG repeat length was 44 for the boy and ranged from 12 to 32 for 100 control males. The DNA sequences of the AR gene were normal for the exons 1-8 and for the splice donor, splice acceptor and branch sites. The markedly expanded CAG repeat length appears to be relevant to the undermasculinized genitalia of this boy, because such an expandsion, which has previously been reported only in spinal and bulbar muscular atrophy, is known to reduce AR function.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Ogata T,Muroya K,Ishii T,Suzuki Y,Nakada T,Sasagawa Idoi
10.1046/j.1365-2265.2001.01205.xkeywords:
subject
Has Abstractpub_date
2001-06-01 00:00:00pages
835-8issue
6eissn
0300-0664issn
1365-2265pii
cen1205journal_volume
54pub_type
杂志文章abstract:OBJECTIVE:Thyroid dysfunction and obesity during pregnancy have been associated with negative neonatal and obstetric outcomes. Thyroid hormone reference ranges have not been established for the pregnant Hispanic population. This study defines thyroid hormone reference ranges during early pregnancy in Chilean women and ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13127
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:Our clinical practice has been to offer treatment with cyclical disodium etidronate and high dose calcium supplements (1500-1600 mg/day) to all female patients with osteoporosis who are unable or unwilling to take hormone replacement therapy (HRT), and male osteoporotics. In a retrospective study we compared ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb02537.x
更新日期:1994-08-01 00:00:00
abstract:OBJECTIVES:Localization of ectopic ACTH-secreting tumours causing Cushing syndrome (ECS) is essential for clinical management, yet often difficult. [68 Ga]-DOTATATE PET/CT ([68 Ga]-DOTA-(Tyr3 )-octreotate)] is an FDA-approved high-resolution diagnostic tool for imaging neuroendocrine tumours. Data on the clinical utili...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/cen.14008
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE:The somatostatin analogue octreotide (Sandostatin, Novartis, Basie) significantly improves the syndromes suffered by most patients with neuroendocrine tumours (NETs). The use of [111In-DTPA-D-Phe1]-octreotide scintigraphy ([111In]-pentetreotide) to predict the response to octreotide treatment has been describ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00373.x
更新日期:1998-03-01 00:00:00
abstract:OBJECTIVE:We evaluated menopausal symptoms, menstrual cycle bleeding characteristics and reproductive hormones for their associations with thyroid stimulating hormone (TSH) concentrations in women at the mid-life from five ethnic groups. METHODS:This report is from the baseline evaluation of the Study of Women's Healt...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1046/j.1365-2265.2003.01718.x
更新日期:2003-03-01 00:00:00
abstract::Anti-Müllerian hormone (AMH) is a dimeric glycoprotein, a member of the transforming growth factor (TGF) superfamily. It is produced exclusively in the gonads and is involved in the regulation of follicular growth and development. In the ovary AMH is produced by the granulosa cells of early developing follicles and se...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2006.02533.x
更新日期:2006-06-01 00:00:00
abstract::OBJECTIVE The aim of the study was to investigate whether pyridostigmine, a cholinesterase inhibitor which is thought to act at the hypothalamus to inhibit somatostatin secretion, would augment spontaneous or GHRH-stimulated serum GH levels in patients with GH-insufficiency. DESIGN Oral pyridostigmine 60 mg or placebo...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1991.tb00313.x
更新日期:1991-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Parathyroid hormone-related protein (PTHrP) produced by cancers has a central role as a humoral mediator of hypercalcaemia in patients with malignancy. Since the prevalences of hypercalcaemia of malignancy and parathyroid disease reflect the population studied, hypercalcaemic patients from a di...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2265.1994.tb02569.x
更新日期:1994-10-01 00:00:00
abstract:OBJECTIVE:Surgery of bone metastases from differentiated thyroid carcinoma seems indicated in individual patients. This study was performed (1) to analyse retrospectively patients with bone metastases from differentiated thyroid carcinoma and (2) to evaluate the impact of surgery of bone metastases on survival. PATIEN...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01482.x
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVES:The differentiation of constitutional delayed puberty (CDP) from gonadotrophin deficiency (GD) in boys at referral poses a difficult challenge. The effectiveness of the GnRH agonist (GnRH-a) test in distinguishing between the two conditions was evaluated and compared with findings of the GnRH and hCG stimula...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01520.x
更新日期:2002-05-01 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
abstract:OBJECTIVE:In January 1997 we introduced a protocol for the treatment with GH of children with impaired growth after unfractionated total body irradiation (TBI). This study is an evaluation of that protocol. PATIENTS AND METHODS:Between January 1997 and July 2005, 66 patients (48 male) treated for haematological malign...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.2007.02930.x
更新日期:2007-10-01 00:00:00
abstract:OBJECTIVE:To compare effectiveness and tolerability of quinagolide (CV 205-502) and cabergoline (CAB) treatments in 39 patients with prolactinoma. STUDY DESIGN:All 39 patients were treated first with quinagolide for 12 months and then with cabergoline for 12 months. A wash-out period was performed in all patients afte...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2265.2000.01016.x
更新日期:2000-07-01 00:00:00
abstract::A 30-year-old presented in 1984 with a clinically nonfunctional tumour which subsequently developed into a metastatic corticotrophinoma from which he died despite surgery in 1984, 1986 and 1991 and external radiotherapy in 1986. Molecular genetic analysis of tumour and metastatic tissue revealed loss of heterozygosity...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb02697.x
更新日期:1995-06-01 00:00:00
abstract:OBJECTIVE:Given the important role of the beta2-adrenoceptor (beta2-AR) in lipid mobilization and the lack of studies in Southern European countries, the aim of this study was to investigate the role of the glutamine 27 glutamic acid (Gln27Glu) beta2-AR polymorphism in the susceptibility to obesity and its metabolic co...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01871.x
更新日期:2003-10-01 00:00:00
abstract:OBJECTIVE:Pituitary responsiveness to GnRH varies throughout the normal menstrual cycle. We have investigated whether there are differences in the ovarian mechanisms which regulate gonadotrophin secretion between the follicular and the luteal phase of the cycle. DESIGN:Normally ovulating women were studied during the ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.3461141.x
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVE:Recent studies have shown that Graves' disease (GD) is linked to and associated with alleles of the cytotoxic T lymphocyte antigen-4 (CTLA4) locus. However, the true pathogenic polymorphism(s) at this locus remains uncertain. Moreover, the association studies of the promoter CTLA4(-318)C/T polymorphism in whi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01778.x
更新日期:2003-06-01 00:00:00
abstract:OBJECTIVE:Epidemiological studies on the cardiovascular risk of progestagen-only contraceptives are rare. With the present study we aimed to investigate the effect of the low-dose etonogestrel-releasing contraceptive implant Implanon on cardiovascular risk factors, including markers of inflammation. DESIGN:Longitudina...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.03046.x
更新日期:2008-03-01 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::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:BACKGROUND:Thyroid cancer incidence has been increasing worldwide. Some suggest greater ascertainment of indolent tumours is the only driver, but others suggest there has been a true increase. Increases in Australia appear to have been among the largest in the world, so we investigated incidence trends in the Australia...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12724
更新日期:2016-02-01 00:00:00
abstract:CONTEXT:Glucokinase (GCK) phosphorylates and thereby "traps" glucose in cells, thus serving as a gatekeeper for cellular glucose metabolism, particularly in hepatocytes and pancreatic beta cells. In humans, activating GCK mutations cause familial hyperinsulinaemic hypoglycaemia (GCK-HH), leading to keen interest in the...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12517
更新日期:2014-12-01 00:00:00
abstract::A A 23-year-old man with secondary hypogonadism was also found to be thyrotoxic. Results of thyroid function tests were in the hyperthyroid range but the serum TSH was inappropriately high. A pituitary tumour was demonstrated and following hypophysectomy he became biochemically hypothyroid. Evidence is presented and d...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1976.tb02825.x
更新日期:1976-03-01 00:00:00
abstract::Plasma aldosterone (PA), plasma renin activity (PRA), extracellular fluid volume (EFV) and hepatic blood flow were measured in forty-four patients with sustained essential hypertension and compared with forty-two normotensive controls of same age and sex. All patient had inulin clearances within the normal range and b...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb03150.x
更新日期:1982-01-01 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:OBJECTIVE:We investigated correlations between age-related changes in circulating metabolites and arterial stiffness in impaired fasting glucose (IFG). DESIGN, SUBJECTS, MEASUREMENT:This prospective cohort study included 602 healthy, normal fasting glucose (NFG) subjects (30-65 years old) who underwent triennial medic...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12821
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:Gitelman's syndrome, recognized as a variant of Bartter's syndrome, is characterized by hypokalaemic metabolic alkalosis in combination with hypomagnesaemia and hypocalciuria. Overlapping biochemical features in Gitelman's syndrome and Bartter's syndrome has been observed. Here, we investigated the clinical, ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03649.x
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVES:An inverse relationship has been shown between body mass index (BMI) and the peak growth hormone (GH) response to stimulation in adults and in children with short stature. This relation is observed even within a normal range of BMI. The aim of this study was to investigate the effect of BMI on the GH respons...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2011.03988.x
更新日期:2011-06-01 00:00:00
abstract::We have studied the inositol phospholipid turnover response to thyrotrophin-releasing hormone (TRH) gonadotrophin-releasing hormone (GnRH) and arginine vasopressin (AVP) in five corticotroph and six somatotroph pituitary adenomas. GnRH (100 nM) increased inositol phospholipid turnover in five of five somatotroph adeno...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00467.x
更新日期:1990-07-01 00:00:00
abstract::Transdermal oestradiol, 100 micrograms/d, was used to treat 11 women suffering from postmenopausal symptoms. After 3 weeks therapy there was a significant rise in the plasma oestradiol into the premenopausal range and a significant fall in plasma FSH level and symptom score. Bone resorption, assessed by urinary excret...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03607.x
更新日期:1986-11-01 00:00:00