当前位置： SCI文献检索 > EUROPEAN JOURNAL OF ENDOCRINOLOGY期刊下所有文献 > The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Abstract：

OBJECTIVE:Congenital hypothyroidism (CH), the most common neonatal metabolic disorder, is characterized by impaired neurodevelopment. Although several candidate genes have been associated with CH, comprehensive screening of causative genes has been limited. DESIGN AND METHODS:One hundred ten patients with primary CH were recruited in this study. All exons and exon-intron boundaries of 21 candidate genes for CH were analyzed by next-generation sequencing. And the inheritance pattern of causative genes was analyzed by the study of family pedigrees. RESULTS:Our results showed that 57 patients (51.82%) carried biallelic mutations (containing compound heterozygous mutations and homozygous mutations) in six genes (DUOX2, DUOXA2, DUOXA1, TG, TPO and TSHR) involved in thyroid hormone synthesis. Autosomal recessive inheritance of CH caused by mutations in DUOX2, DUOXA2, TG and TPO was confirmed by analysis of 22 family pedigrees. Notably, eight mutations in four genes (FOXE1, NKX2-1, PAX8 and HHEX) that lead to thyroid dysgenesis were identified in eight probands. These mutations were heterozygous in all cases and hypothyroidism was not observed in parents of these probands. CONCLUSIONS:Most cases of congenital hypothyroidism in China were caused by thyroid dyshormonogenesis rather than thyroid dysgenesis. This study identified previously reported causative genes for 57/110 Chinese patients and revealed DUOX2 was the most frequently mutated gene in these patients. Our study expanded the mutation spectrum of CH in Chinese patients, which was significantly different from Western countries.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

Sun F,Zhang JX,Yang CY,Gao GQ,Zhu WB,Han B,Zhang LL,Wan YY,Ye XP,Ma YR,Zhang MM,Yang L,Zhang QY,Liu W,Guo CC,Chen G,Zhao SX,Song KY,Song HD

doi

10.1530/EJE-17-1017

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

623-633

issue

6

eissn

0804-4643

issn

1479-683X

pii

EJE-17-1017

journal_volume

178

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF ENDOCRINOLOGY文献大全
  • Evidence for a role for insulin-like growth factor binding proteins in glucocorticoid inhibition of normal human osteoblast-like cell proliferation.

    abstract：:Glucocorticoids (GCs) inhibit bone formation in vivo and inhibit osteoblast proliferation and collagen synthesis in vitro. These effects may be mediated by alterations in the insulin-like growth factor (IGF) system. In the present study of normal human osteoblast-like (HOB) cells, we tested the hypothesis that dexamet...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1340591

    authors： Chevalley T,Strong DD,Mohan S,Baylink D,Linkhart TA

    更新日期：1996-05-01 00:00:00

  • Low dose cabergoline for hyperprolactinaemia is not associated with clinically significant valvular heart disease.

    abstract：OBJECTIVE:Recent trials suggest that using ergot-derived dopamine agonists such as cabergoline in the treatment of Parkinson's disease is associated with an increased risk of valvular heart disease. However, the dose of cabergoline used to treat hyperprolactinaemia is considerably less than that used in Parkinson's dis...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-08-0365

    authors： Wakil A,Rigby AS,Clark AL,Kallvikbacka-Bennett A,Atkin SL

    更新日期：2008-10-01 00:00:00

  • Extremely low values of serum leptin in children with congenital generalized lipoatrophy.

    abstract：:Congenital generalized lipoatrophy (CGL) is a syndrome with multiple clinical manifestations and complete atrophy of adipose tissue. The exact mechanism of this disease remains unknown. One hypothesis presupposes an abnormal development of adipocytes. Leptin, the adipocyte-specific product of the ob gene, acts as a re...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1400107

    authors： Jaquet D,Khallouf E,Lévy-Marchal C,Czernichow P

    更新日期：1999-01-01 00:00:00

  • Complex alternative splicing of the GH-V gene in the human testis.

    abstract：:The human growth hormone variant (GH-V) gene is expressed during pregnancy in the syncytiotrophoblast and, as shown recently, in the normal human testis. In addition to the classical transcript encoding for the 22 K major form, intron D-retaining processed mRNAs (GH-V2) have also been described in both tissues. In the...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1390424

    authors： Untergasser G,Hermann M,Rumpold H,Berger P

    更新日期：1998-10-01 00:00:00

  • Pathohistological classification of pituitary tumors: 10 years of experience with the German Pituitary Tumor Registry.

    abstract：:In 1996, the German Registry of Pituitary Tumors was founded by the Pituitary Section of the German Society of Endocrinology as a reference center for collection and consultant pathohistological studies of pituitary tumors. The experiences of the first 10 years of this registry based on 4122 cases will herein be repor...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/eje.1.02326

    authors： Saeger W,Lüdecke DK,Buchfelder M,Fahlbusch R,Quabbe HJ,Petersenn S

    更新日期：2007-02-01 00:00:00

  • A stress reaction affects assessment of selectivity of adrenal venous sampling and of lateralization of aldosterone excess in primary aldosteronism.

    abstract：BACKGROUND:A stress reaction involving increased cortisol release, which has not been documented thus far, might affect the assessment of selectivity of catheterization during adrenal venous sampling (AVS). OBJECTIVE:To investigate whether an ACTH-driven cortisol release occurs during AVS and whether it influences the...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-11-0972

    authors： Seccia TM,Miotto D,Battistel M,Motta R,Barisa M,Maniero C,Pessina AC,Rossi GP

    更新日期：2012-05-01 00:00:00

  • Giant prolactinomas in women.

    abstract：OBJECTIVE:To characterise distinctive clinical features of giant prolactinomas in women. DESIGN:A multicentre, retrospective case series and literature review. METHODS:We collected data from 15 female patients with a pituitary tumour larger than 4 cm and prolactin levels above 1000 μg/l and identified 19 similar case...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,多中心研究,评审

    doi：10.1530/EJE-13-0503

    authors： Delgrange E,Raverot G,Bex M,Burman P,Decoudier B,Devuyst F,Feldt-Rasmussen U,Andersen M,Maiter D

    更新日期：2013-11-22 00:00:00

  • Smallness for gestational age interacts with high mobility group A2 gene genetic variation to modulate height.

    abstract：OBJECTIVE:Height variability is largely under genetic control, although identifying the genetic variants involved has been until recently challenging. Smallness for gestational age (SGA) is a risk factor for adult short stature. Genome-wide association studies have identified a single nucleotide polymorphism (SNP) (rs1...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-08-0794

    authors： Bouatia-Naji N,Marchand M,Cavalcanti-Proença C,Daghmoun S,Durand E,Tichet J,Marre M,Balkau B,Froguel P,Lévy-Marchal C

    更新日期：2009-04-01 00:00:00

  • Some studies on the natural history of Graves' orbitopathy: increase in orbital fat is a rather late phenomenon.

    abstract：AIM:To describe volumes of orbital fat (FV) and extraocular muscles (MV) in Graves' orbitopathy (GO) as a function of the duration of GO. PATIENTS:i) Cross-sectional survey among 95 consecutive patients with untreated GO who had been referred to the combined thyroid-eye clinics of our university hospital. ii) Longitud...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-14-1140

    authors： Potgieser PW,Wiersinga WM,Regensburg NI,Mourits MP

    更新日期：2015-08-01 00:00:00

  • Vitamin D deficiency is not associated with early stages of thyroid autoimmunity.

    abstract：CONTEXT:Vitamin D deficiency has been identified as a risk factor for a number of autoimmune diseases including type 1 diabetes and multiple sclerosis. OBJECTIVE:We hypothesized that low levels of vitamin D are related to the early stages of autoimmune thyroid disease (AITD). DESIGN:Two case-control studies were perf...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-12-0048

    authors： Effraimidis G,Badenhoop K,Tijssen JG,Wiersinga WM

    更新日期：2012-07-01 00:00:00

  • GH improves growth and clinical status in children with cystic fibrosis -- a review of published studies.

    abstract：:Children with cystic fibrosis (CF) have problems with poor linear growth and inadequate weight gain. Nutritional augmentation has been the mainstay of therapy for improving both weight and height in CF; however, inadequate growth continues to be a problem. Furthermore, protein catabolism has been documented even in no...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/eje.0.151s081

    authors： Hardin DS

    更新日期：2004-08-01 00:00:00

  • The effects of the aromatase inhibitor anastrozole on bone metabolism and cardiovascular risk indices in ovariectomized, androgen-treated female-to-male transsexuals.

    abstract：OBJECTIVE:Cases of men with estrogen resistance and aromatase deficiency have highlighted the effects of estrogens on bone metabolism, the cardiovascular system and biochemical variables of the metabolic syndrome. In eugonadal men, administration of an aromatase inhibitor induces a substantial elevation of LH and testo...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,随机对照试验

    doi：10.1530/eje.1.02126

    authors： Bunck MC,Toorians AW,Lips P,Gooren LJ

    更新日期：2006-04-01 00:00:00

  • Glycoprotein hormone alpha-subunit production and plurihormonality in human corticotroph tumours--an in vitro and immunohistochemical study.

    abstract：:Glycoprotein hormone alpha-subunit (alpha SU) is a recognized product of clinically non-functioning, glycoprotein hormone-secreting and somatotroph adenomas but has not been studied systematically in corticotroph tumours. We have performed immunohistochemistry for alpha SU in a consecutive series of four corticotroph ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1330025

    authors： Desai B,Burrin JM,Nott CA,Geddes JF,Lamb EJ,Aylwin SJ,Wood DF,Thakkar C,Monson JP

    更新日期：1995-07-01 00:00:00

  • Changes in the glycosylation pattern of circulating gonadotropins after acute administration of gonadotropin-releasing hormone in patients with anorexia nervosa.

    abstract：:To study the involvement of gonadotropin-releasing hormone (GnRH) in glycosylation of circulating gonadotropin isoforms in anorexia nervosa (AN), 14 amenorrhoic patients with AN, 14 age-matched volunteers in early follicular phase, and five normal-weight re-fed patients with AN were investigated under baseline conditi...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1380076

    authors： Savastano S,Tommaselli AP,Valentino R,Luciano A,Gigante M,Randazzo G,Contaldo F,Scalfi L,Lombardi G

    更新日期：1998-01-01 00:00:00

  • Serum concentrations of atherogenic proteins neutrophil gelatinase-associated lipocalin and its complex with matrix metalloproteinase-9 are significantly lower in women with polycystic ovary syndrome: hint of a protective mechanism?

    abstract：BACKGROUND:Neutrophil gelatinase-associated lipocalin (NGAL) and matrix metalloproteinase-9 (MMP-9) have been considered as important mediators of vascular remodeling and plaque instability. The formation of a complex with NGAL and MMP-9 is crucial for atherotic plaque erosion and thrombus formation. In women with poly...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-07-0822

    authors： Diamanti-Kandarakis E,Livadas S,Kandarakis SA,Margeli A,Papassotiriou I

    更新日期：2008-04-01 00:00:00

  • C-peptide and the risk for incident complications and mortality in type 2 diabetic patients: a retrospective cohort study after a 14-year follow-up.

    abstract：OBJECTIVE:C-peptide, a cleavage product of insulin, exerts biological effects in patients with type 1 diabetes mellitus, but its role in type 2 diabetes mellitus is controversial. Our aim was to examine the associations between fasting C-peptide levels and all-cause mortality, specific-cause mortality and the incidence...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-12-0085

    authors： Bo S,Gentile L,Castiglione A,Prandi V,Canil S,Ghigo E,Ciccone G

    更新日期：2012-08-01 00:00:00

  • Changes in mRNA levels of a pituitary-specific trans-acting factor, Pit-1, and prolactin during the rat estrous cycle.

    abstract：:The present study examined the changes in mRNA levels of a pituitary-specific trans-acting factor, Pit-1, and prolactin during the rat estrous cycle. Total cytoplasmic RNA was analyzed by Northern blot and slot-blot hybridization to examine the prolactin mRNA level. Reverse transcription-polymerase chain reaction (RT-...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1320771

    authors： Lee BJ,Kim JH,Lee CK,Kang HM,Kim HC,Kang SG

    更新日期：1995-06-01 00:00:00

  • GH deficiency in patients after cure of acromegaly by surgery alone.

    abstract：OBJECTIVE:The aim of this study was to determine the frequency and characteristics of severe GH deficiency (sGHD) in patients after treatment of acromegaly by surgery alone. DESIGN AND METHODS:One hundred and eighty-six patients fulfilling the criteria for cure of acromegaly were examined by GH-releasing peptide-2 sti...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-11-0657

    authors： Yamada S,Fukuhara N,Nishioka H,Takeshita A,Suzuki H,Miyakawa M,Takeuchi Y

    更新日期：2011-12-01 00:00:00

  • Evaluation of health-related quality of life in patients with Cushing's syndrome with a new questionnaire.

    abstract：UNLABELLED:Chronic exposure to hypercortisolism has significant impact on patient's health and health-related quality of life (HRQoL), as demonstrated with generic questionnaires. We have developed a disease-generated questionnaire to evaluate HRQoL in patients with Cushing's syndrome (CS; CushingQoL). OBJECTIVE:Valid...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-07-0762

    authors： Webb SM,Badia X,Barahona MJ,Colao A,Strasburger CJ,Tabarin A,van Aken MO,Pivonello R,Stalla G,Lamberts SW,Glusman JE

    更新日期：2008-05-01 00:00:00

  • Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.

    abstract：OBJECTIVE:To investigate the frequencies of the major maturity-onset diabetes of the young (MODY) subtypes in a panel of Spanish families and to assess phenotypic differences in patients with the different subtypes of MODY. METHODS:Forty-eight subjects from twenty families with clinical diagnosis of MODY were studied....

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1420380

    authors： Costa A,Bescós M,Velho G,Chêvre J,Vidal J,Sesmilo G,Bellanné-Chantelot C,Froguel P,Casamitjana R,Rivera-Fillat F,Gomis R,Conget I

    更新日期：2000-04-01 00:00:00

  • Endocrine health conditions in adult survivors of childhood cancer: the need for specialized adult-focused follow-up clinics.

    abstract：BACKGROUND:Survival rates among childhood cancer survivors (CCS) have enormously increased in the last 40 years. However, this improvement has been achieved at the expense of serious late effects that frequently involve the endocrine system. AIM:To evaluate the cumulative incidence of endocrine diseases in a cohort of...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-12-1043

    authors： Brignardello E,Felicetti F,Castiglione A,Chiabotto P,Corrias A,Fagioli F,Ciccone G,Boccuzzi G

    更新日期：2013-02-20 00:00:00

  • Complete disappearance of a GH-secreting pituitary macroadenoma in a patient with acromegaly: effect of treatment with lanreotide Autogel and consequence of treatment withdrawal.

    abstract：BACKGROUND:Somatostatin analogs (SA) are the cornerstone in the medical treatment of acromegaly, used as either primary or adjunctive therapy. In particular, SA are effective in inducing the biochemical remission of the disease and tumor shrinkage, although only few cases of complete disappearance of the pituitary tumo...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-09-0769

    authors： Auriemma RS,Galdiero M,Grasso LF,Vitale P,Cozzolino A,Lombardi G,Colao A,Pivonello R

    更新日期：2010-05-01 00:00:00

  • High serum luteinizing hormone levels induce ovarian delta4 cytochrome P450c17alpha down-regulation in hirsute women: complete effect on 17-hydroxylase and partial effect on 17,20-lyase.

    abstract：:It is well known that normal and mildly elevated luteinizing hormone (LH) levels induce increased activity of ovarian 17-hydroxylase and 17,20-lyase, the cytochrome P450cl7alpha (P450) enzymes. This leads to increased ovarian 17alpha-hydroxyprogesterone (17-OHP) and androstenedione production. In contrast, it has been...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章

    doi：10.1530/eje.0.1390304

    authors： Rieu M,Mourrieras F,Riveline JP,Laplanche S,Both D,Kuhn JM

    更新日期：1998-09-01 00:00:00

  • Effects of dehydration on endocrine regulation of the electrolyte and fluid balance and atrial natriuretic peptide-binding sites in perinatally malnourished adult male rats.

    abstract：OBJECTIVE:The first aim of this work was to investigate, under basal conditions in adult male rats, the long-term consequences of perinatal maternal food restriction on the plasma concentrations of vasopressin (VP), aldosterone and atrial natriuretic peptide (ANP) and on plasma renin activity (PRA). Furthermore, under ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1470835

    authors： Sebaai N,Lesage J,Alaoui A,Dupouy JP,Deloof S

    更新日期：2002-12-01 00:00:00

  • Inhibition of insulin secretion via distinct signaling pathways in alpha2-adrenoceptor knockout mice.

    abstract：OBJECTIVE:Adrenaline inhibits insulin secretion through activation of alpha(2)-adrenoceptors (ARs). These receptors are linked to pertussis toxin-sensitive G proteins. Agonist binding leads to inhibition of adenylyl cyclase, inhibition of Ca(2+) channels and activation of K(+) channels. Recently, three distinct subtype...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1490343

    authors： Peterhoff M,Sieg A,Brede M,Chao CM,Hein L,Ullrich S

    更新日期：2003-10-01 00:00:00

  • Changes in bone density and bone markers in rhythmic gymnasts and ballet dancers: implications for puberty and leptin levels.

    abstract：OBJECTIVE:Our aim was to compare physical activity and biochemical markers with bone mineral acquisition in rhythmic gymnasts and ballet dancers. METHODS:Weight, height, body mass index, nutritional intake, bone age and menstrual histories were analyzed in nine rhythmic gymnasts, twelve ballet dancers and fourteen con...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1510491

    authors： Muñoz MT,de la Piedra C,Barrios V,Garrido G,Argente J

    更新日期：2004-10-01 00:00:00

  • Interactions between the extracellular domain and the extracellular loops as well as the 6th transmembrane domain are necessary for TSH receptor activation.

    abstract：OBJECTIVE:The molecular mechanisms of TSH receptor (TSHR) activation and intramolecular signal transduction are largely unknown. Deletion of the extracellular domain (ECD) of the TSHR results in increased constitutive activity, which suggests a self-inhibitory interaction between the ECD and the extracellular loops (EC...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.01891

    authors： Neumann S,Claus M,Paschke R

    更新日期：2005-04-01 00:00:00

  • Iodine fortification may influence the age-related change in thyroid volume: a longitudinal population-based study (DanThyr).

    abstract：OBJECTIVE:To assess the individuals' thyroid volume changes after the mandatory nationwide iodine fortification (IF) program in two Danish areas with different iodine intake at baseline (Copenhagen, mild iodine deficiency (ID) and Aalborg, moderate ID). DESIGN:A longitudinal population-based study (DanThyr). METHODS:...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-13-0918

    authors： Krejbjerg A,Bjergved L,Pedersen IB,Carlé A,Jørgensen T,Perrild H,Ovesen L,Rasmussen LB,Knudsen N,Laurberg P

    更新日期：2014-03-08 00:00:00

  • Commentary-FSH and bone 2010: evolving evidence.

    abstract：:Bone loss due to menopause, natural or artificial, has been attributed solely to low estrogen. However, in a woman's life, the most precipitous bone loss begins 2 years prior to the last menstrual period, during which time estrogen levels are unperturbed whereas FSH is elevated. Our cell-based and mouse genetic studie...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-10-0397

    authors： Iqbal J,Sun L,Zaidi M

    更新日期：2010-07-01 00:00:00

  • Tumor necrosis factor-alpha decreases thyrotropin-induced 5'-deiodinase activity in FRTL-5 thyroid cells.

    abstract：:Tumor necrosis factor-alpha (TNF-alpha) exerts various effects on many cell types. Acute administration of TNF-alpha to rats decrease hepatic 5'-deiodinase activity (5'D-I) and TNF-alpha has been implicated in the pathogenesis of the low triiodothyronine syndrome in non-thyroidal illness in humans. The thyroid, liver ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1300502

    authors： Ongphiphadhanakul B,Fang SL,Tang KT,Patwardhan NA,Braverman LE

    更新日期：1994-05-01 00:00:00