Abstract:
OBJECTIVES:Mutations in the dual oxidase 2 gene (DUOX2) is the most common genetic cause of congenital hypothyroidism (CH) in Japan. All previously described DUOX2 mutation-carrying families have followed autosomal recessive inheritance. We report a nonconsanguineous Japanese family harbouring biallelic DUOX2 mutations, which presented an apparently dominant inheritance of nonautoimmune hypothyroidism. DESIGN AND METHODS:The proband and her two sisters had been diagnosed as having CH on newborn screening and were treated with levothyroxine. Their mother had subclinical hypothyroidism. We sequenced DUOX2 in the proband and her family members. Pathogenicity of the identified novel mutation (p.Y1347C) was verified in vitro. RESULTS:We found that the proband and her sisters were compound heterozygous for a novel DUOX2 mutation p.Y1347C and a previously reported functional variant p.H678R. Unexpectedly, we found that the mother was homozygous for p.H678R. Expression experiments showed that the p.Y1347C mutant had reduced H2 O2 -producing activity, although there was no significant difference in the level of protein expression or localization, between wild type and p.Y1347C. CONCLUSIONS:We report a DUOX2 mutation-carrying pedigree presenting pseudodominant inheritance of nonautoimmune hypothyroidism. We speculate that the relatively high frequency of DUOX2 mutations could lead to pseudodominant inheritance in Japan.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Abe K,Narumi S,Suwanai AS,Hamajima T,Hasegawa Tdoi
10.1111/cen.12622subject
Has Abstractpub_date
2015-09-01 00:00:00pages
394-8issue
3eissn
0300-0664issn
1365-2265journal_volume
83pub_type
杂志文章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: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:BACKGROUND:To define the symptoms, signs and treatment outcomes in a population of older patients with Cushing's disease (CD). METHODS:We analysed the clinical presentation and treatment outcomes in 45 CD patients older than 60 years, in comparison with 90 CD patients younger than 60, and a control group of 45 older p...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13799
更新日期:2018-10-01 00:00:00
abstract:OBJECTIVE:The prevalence of autoimmune polyendocrine syndrome type 1 (APS1) among isolated hypoparathyroidism (HP) or primary adrenal insufficiency (PAI) is not well established. We studied the frequency of APS1 in patients with HP or PAI by measuring interferon-α (IFN-α) antibody levels, a highly sensitive and specifi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13111
更新日期:2016-10-01 00:00:00
abstract::A 42-year-old woman had galactorrhoea and amenorrhoea. Four years previously she complained of sensory disturbance of her legs, with galt disturbance. Serum PRL level was 1408 mU/l. Magnetic resonance imaging showed a spindle-shaped mass in the spinal canal at the level of the ninth thoracic vertebra. The tumour was r...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1460947.x
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:Vascular dysfunction and accelerated atherosclerosis are prominent features of hypothyroidism. The relative roles of thyroid hormone (TH) deficiency and the associated vascular risk conditions are still unclear. We studied the impact of acute and chronic hypothyroidism on vascular reactivity. PATIENTS:We stu...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03609.x
更新日期:2010-01-01 00:00:00
abstract::The paradoxical GH response to TRH observed in certain adolescents with constitutional tall stature is associated with a 60% fall in plasma levels of somatostatin. Conversely, those tall subjects who do not show a GH increase after TRH, or during a saline control infusion maintain steady levels of somatostatin in plas...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb03232.x
更新日期:1984-10-01 00:00:00
abstract:OBJECTIVE:The development and progression of sporadic adrenocortical tumours are poorly understood. In autopsy studies adrenocortical tumours are found in between 2 and 9% of the general population. In congenital adrenal hyperplasia (CAH), decreased production of cortisol leads to increased secretion of ACTH from the p...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00655.x
更新日期:1999-03-01 00:00:00
abstract::We studied the circadian rhythm and the response of the hypothalamic-pituitary-adrenal (HPA) axis to ovine corticotrophin releasing hormone (oCRH) stimulation and dexamethasone suppression in 32 children with grade II-III marasmus. Children were studied prior to and after nutritional rehabilitation. Mean baseline plas...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00886.x
更新日期:1990-04-01 00:00:00
abstract::A radioimmunoassay (RIA) procedure was devised for the estimation of PRL in eluates of dried whole blood from filter paper. Levels of PRL were measured in newborn blood obtained during the first week of life from 530 infants of normal birthweight (greater than 2500 g) with normal T4 values, 114 infants of normal birth...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03253.x
更新日期:1986-01-01 00:00:00
abstract:OBJECTIVE:Calcium absorption is an important determinant of calcium retention and bone metabolism. However, most methods of measuring calcium absorption, including the well-established dual stable isotope method, are costly and cumbersome to implement. We evaluated whether an oral calcium tolerance test (OCTT), which i...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2265.2009.03576.x
更新日期:2010-01-01 00:00:00
abstract:PURPOSE:Massive macronodular adrenocortical disease (MMAD) may be caused by aberrant microRNA expression. To determine the microRNA profile in MMAD and identify putative microRNA-gene target pairs involved in adrenal tumourigenesis. EXPERIMENTAL DESIGN:We performed microRNA microarray analysis in 10 patients with ACTH...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03725.x
更新日期:2010-06-01 00:00:00
abstract::A 25-year-old primigravid woman presented with Cushing's syndrome at 23 weeks gestation; serum cortisol was 1090 nmol/l at 0900 h, 1230 nmol/l at 2200 h; basal urinary free cortisol excretion was 3680 nmol/24 h, and 8830 nmol/24 h after dexamethasone 8 mg daily for 48 hours; plasma ACTH was < 1.1 pmol/l. CT scan of th...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02380.x
更新日期:1993-09-01 00:00:00
abstract::Twenty-four hyperprolactinaemic women were treated for 6 months with the new, non-ergot, long-acting dopamine agonist, CV 205-502. The treatment resulted in normalization of PRL secretion in 17 of the 24 women at once-daily doses of 0.05 to 0.15 mg of the drug. Sixteen of these women as well as 4 of those who remained...
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.tb01225.x
更新日期:1988-09-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13291
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:Cushing's syndrome (CS) is a well recognized cause of bone loss. Although many previous studies have shown decreased bone mineral density (BMD) in the lumbar spina and proximal femur of patients with endogenous CS, so far, the data estimating BMD in their peripheral skeleton are sparse. The aim of the present...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.01968.x
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:In order to investigate whether somatotrophs are the target of antipituitary antibodies (APA) in adult patients with growth hormone deficiency (GHD), we studied the sera of 37 APA positive patients. PATIENTS:Patients were grouped as follows: nine patients with APA at high titre (> 1 : 8) affected by apparent...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02296.x
更新日期:2005-07-01 00:00:00
abstract::To explore the mechanism for the hypogonadism associated with prolactin hypersecretion in men we examined luteinizing hormone (LH) secretory profiles in four hyperprolactinaemic men before and during treatment with bromocriptine. Pretreatment serum prolactin levels were increased 4-100 fold and serum testosterone leve...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb03467.x
更新日期:1984-09-01 00:00:00
abstract:OBJECTIVE:Poorly differentiated thyroid cancer (PDTC) is a rare, but aggressive thyroid cancer (TC) and a main cause of death from non-anaplastic follicular cell-derived TC. Assessing the risk of PDTC-related death and the risk of recurrence is important for clinicians. The recent American Thyroid Association (ATA) 201...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13910
更新日期:2019-08-01 00:00:00
abstract::The effects of thyroid hormones and antithyroid treatment upon lumbar spine bone mineral content (lumbar BMC) were studied in a consecutive series of patients with myxoedema and thyrotoxicosis, respectively. All patients were investigated in the untreated state and 3-monthly during appropriate treatment for 1 year by ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb02873.x
更新日期:1983-05-01 00:00:00
abstract:OBJECTIVE:Both severe growth hormone (GH) deficiency in hypopituitary adults and physiological ageing are associated with an increase in fat mass, dyslipidaemia, and an increased incidence of cardiovascular disease. Ageing is also associated with a physiological decrease in spontaneous as well as stimulated GH secretio...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00772.x
更新日期:1999-09-01 00:00:00
abstract::The pathogenetic mechanisms underlying pituitary tumorigenesis are largely unknown. Previous reports have suggested that aggressive pituitary adenomas and/or carcinomas may be associated with genetic alterations that are distinct from those responsible for the more common and less aggressive pituitary adenomas. Here, ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01322.x
更新日期:2001-10-01 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:Adult onset GH deficiency (GHD) is characterized by abnormalities of serum lipoprotein profiles and GH replacement results in favourable alterations in serum total and low density lipoprotein (LDL)-cholesterol. Preliminary evidence has indicated that the effect of GH replacement in this respect may be additiv...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02935.x
更新日期:2007-10-01 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:BACKGROUND:Urine calcium after an overnight fast is higher in osteoporotic than in normal post-menopausal women. The question is whether this is the cause or effect of the bone-losing state. OBJECTIVE:To establish whether the elevated obligatory calcium loss in osteoporotic women is due to a raised filtered load of ca...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb03782.x
更新日期:1994-07-01 00:00:00
abstract::Two patients with profound hypocalcaemia due to uraemia and hypoparathyroidism respectively presented with alterations of mental state as their dominant symptom. 1-Alpha-hydroxycholecalciferol (1-alpha-OHD3) was chosen as the principal therapy because of its potency and rapid action. In both patients the plasma calciu...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1976.tb01983.x
更新日期:1976-09-01 00:00:00
abstract:CONTEXT:Teriparatide (TPTD) therapy has been proposed as a potential treatment strategy in severe cases of pregnancy- and lactation-associated osteoporosis (PLO) characterized by the occurrence of fragility fractures in the third trimester or early postpartum. OBJECTIVE:To investigate the changes in bone mineral densi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13557
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:The aim was to determine the target range into which mean daily serum cortisol should be lowered in patients on medical therapy for Cushing's syndrome, using isotopically estimated cortisol production rates as 'gold standard'. DESIGN:Patients with Cushing's syndrome on medical treatment were given 12 ng of t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02391.x
更新日期:1993-10-01 00:00:00
abstract:OBJECTIVE:Identification of the novel endocrine role of osteocalcin (OC) and its receptor GPRC6A has given rise to a new branch of research in OC/GPRC6A axis related to glucose metabolism. GPRC6A- and OC-deficient mice share features of the metabolic syndrome, in addition to male infertility. Recently, the polymorphism...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13248
更新日期:2017-02-01 00:00:00