Abstract:
:The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFκB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in ∼3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Wit JM,Oostdijk W,Losekoot M,van Duyvenvoorde HA,Ruivenkamp CA,Kant SGdoi
10.1530/EJE-15-0937subject
Has Abstractpub_date
2016-04-01 00:00:00pages
R145-73issue
4eissn
0804-4643issn
1479-683Xpii
EJE-15-0937journal_volume
174pub_type
杂志文章,评审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
更新日期:2013-11-22 00:00:00
abstract:OBJECTIVE:Prevalence of non-alcoholic fatty liver disease (NAFLD) among children is increasing dramatically. It is unclear why some patients develop steatohepatitis (NASH), fibrosis and cirrhosis from steatosis, and others do not. A role for leptin has been claimed. This study aims to evaluate the relationship between ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02288
更新日期:2006-11-01 00:00:00
abstract::Maintenance of fluid homeostasis during periods of heightened physical stress can be best evaluated in humans using exercise as a model. Although it is well established that arginine vasopressin (AVP), aldosterone and atrial natriuretic peptide (ANP) are the principle hormones regulating fluid balance at rest, the pot...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0064
更新日期:2008-12-01 00:00:00
abstract::In many centres, a test dose (TD) of octreotide is administered before commencing somatostatin analogue therapy (SAT), although the merits of this procedure are uncertain. We have analysed the value of the GH response to a TD in predicting the efficacy of subsequent SAT in 47 patients with acromegaly (25 male, median ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02073
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVE:The DAZ (deleted in azoospermia) gene family on the Y chromosome long arm is the major candidate for the AZFc (azoospermia factor c) phenotype of male infertility and it is expressed only in germ cells. The aim of the study was to assess Sertoli cell function in subjects with AZFc deletions. DESIGN:Case-cont...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460801
更新日期:2002-06-01 00:00:00
abstract::The polyglandular autoimmune syndromes (PAS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (PAS type I) and a relatively common adult type with (PAS II) or without adrenal failure (PAS III). First clinical manifestation of PAS I usually occurs in childhood, whereas PAS II m...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-09-0044
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to evaluate the expression of tumor necrosis factor (TNF)-alpha protein in the subcutaneous and visceral adipose tIssue in correlation with adipocyte cell Volume, serum TNF-alpha, soluble TNF-receptor-2 (sTNFR-2) and indirect parameters of insulin resistance in overweight/obese and le...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1490129
更新日期:2003-08-01 00:00:00
abstract:OBJECTIVE:Depot GnRH agonists are commonly used in the treatment of central precocious puberty (CPP). The triptorelin 11.25 mg 3-month depot, currently used in adult indications, had not previously been evaluated in CPP. DESIGN:This was a multicenter, open-label, 12 month trial conducted in 64 CPP children (54 girls a...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1530/eje.1.02056
更新日期:2006-01-01 00:00:00
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
更新日期:2006-04-01 00:00:00
abstract:OBJECTIVE:FSH, via its receptor (FSHR), influences bone remodeling and osteoclast proliferation and activity. The aim of this study was to evaluate the influence of two single nucleotide polymorphisms (SNPs) of the FSHR gene on bone mineral density (BMD) and bone turnover markers (bone alkaline phosphatase and type I c...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-10-0043
更新日期:2010-07-01 00:00:00
abstract::Administration of growth hormone (GH) to patients with growth hormone deficiency (GHD) has beneficial effects, but so far has been employed only empirically. We have, therefore, investigated the dose-dependent effect of GH on target tissue by studying biochemical markers of bone and collagen turnover in GHD. Then pati...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1350666
更新日期:1996-12-01 00:00:00
abstract:BACKGROUND:Mortality in acromegaly strictly depends on optimal control of GH and IGF1 levels. Modern medical therapy with somatostatin analogs (SSAs) and GH receptor antagonists (GHRAs) is not available in many countries due to funding restrictions. This retrospective, comparative, cohort study investigated the impact ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-1022
更新日期:2014-08-01 00:00:00
abstract:OBJECTIVE:11beta-Hydroxylase and aldosterone synthase are two highly homologous genes involved in different forms of human hypertension and in different animal models of hypertension. It has been shown that the conservative substitution D147E in the human CYP11B2 gene results in an increased production of corticosteron...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1440397
更新日期:2001-04-01 00:00:00
abstract:BACKGROUND:Ki-67 labeling index (LI) is currently regarded as a useful prognostic marker of pituitary adenoma (PA) clinical behavior, although its relevance as a reliable clinical indicator is far from being universally accepted, since both validations and criticisms are found in the literature. Minichromosome maintena...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-15-0586
更新日期:2016-03-01 00:00:00
abstract::Hypothyroidism is associated with increased morbidity from cardiovascular disease, and an increase in serum osteoprotegerin (OPG) has recently been reported to be associated with the severity of coronary heart disease and cardiovascular mortality. The present study was designed to examine whether hypothyroidism causes...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01870
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:The purpose of this meta-analysis was to examine the evidence for the effectiveness of aerobic exercise interventions on reducing insulin resistance markers in obese children and/or adolescents. A secondary outcome was change in percentage of body fat. METHODS:A computerized search was made from seven databa...
journal_title:European journal of endocrinology
pub_type: 杂志文章,meta分析
doi:10.1530/EJE-14-0291
更新日期:2014-10-01 00:00:00
abstract::For patients with neuroendocrine tumours (NETs) of the gastrointestinal tract and pancreas (GEP) (GEP-NETs), excellent care should ideally be provided by a multidisciplinary team of skilled health care professionals. In these patients, a combination of nuclear medicine imaging and conventional radiological imaging tec...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-14-0077
更新日期:2014-04-10 00:00:00
abstract:BACKGROUND:Gastric carcinoid tumours type 1 (GCA1) originate from hyperplastic enterochromaffin-like (ECL) cells secondary to hypergastrinaemia. Treatment with somatostatin analogues (SSA) might impede ECL-cell hyperplasia by suppressing gastrin secretion and/or by a direct anti-proliferative effect on ECL cells. We co...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1530/EJE-08-0420
更新日期:2008-10-01 00:00:00
abstract::In 2006, two major society-sponsored guidelines and one major consensus statement for thyroid diagnosis and management were published by: the American Association of Clinical Endocrinologists/Associazione Medici Endocrinologi (AACE/AME); the American Thyroid Association (ATA); and the European Thyroid Association (ETA...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-08-0135
更新日期:2008-11-01 00:00:00
abstract:OBJECTIVE:To determine the benefit of periodical clinical screening of carriers of a mutation in the multiple endocrine neoplasia type 1 (MEN-1) gene, because any useful discussion requires more concrete data. DESIGN AND METHODS:Our study population consisted of all the patients with MEN-1 (n=58) who were treated at t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1490577
更新日期:2003-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0479
更新日期:2020-04-01 00:00:00
abstract:CONTEXT:The urea cycle is a rate-limiting step for amino acid nitrogen elimination. The rate of urea synthesis is a true indicator of whole-body protein catabolism. Testosterone reduces protein and nitrogen loss. The effect of testosterone on hepatic urea synthesis in humans has not been studied. OBJECTIVE:To determin...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0868
更新日期:2017-04-01 00:00:00
abstract::With the use of two central health registries in Sweden, the Hospital Discharge Registry and the Medical Birth Registry, we identified 100 infants born of women who had been hospitalized for diabetes insipidus. By checking the medical records of these women, 29 infants were identified whose mothers had diabetes insipi...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1320144
更新日期:1995-02-01 00:00:00
abstract:Objective:Glucocorticoid treatment of inflammatory disorders is associated with significant adverse effects related to glucocorticoid excess as well as adrenal insufficiency. This necessitates awareness of its use. We therefore investigated trends in systemic glucocorticoid use as well as morbidity and comedications am...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0305
更新日期:2019-09-01 00:00:00
abstract:OBJECTIVE:To investigate the relationship between resistin (a potential link between obesity and type 2 diabetes) and preadipocyte differentiation. DESIGN:A rat resistin expression vector was transfected into 3T3-L1 preadipocytes and differentiation was compared between normal 3T3-L1 cells, rat resistin-transfected ce...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1500885
更新日期:2004-06-01 00:00:00
abstract:BACKGROUND:Fetal growth restriction (FGR) has been related to several health risks, which have been generally identified in small-for-gestational age (SGA) individuals. OBJECTIVE:To evaluate the impact of FGR on body composition and hormonal status in infants born either small- or appropriate-for-gestational age (AGA)...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0286
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVE:To assess the effect of age on clinical, endocrine and sonographic features associated with polycystic ovary syndrome (PCOS) in normogonadotrophic anovulatory infertile women of reproductive years. DESIGN:Cross-sectional study. METHODS:Four hundred and seventy-two oligo-amenorrhoeic infertile patients, pres...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1450749
更新日期:2001-12-01 00:00:00
abstract:OBJECTIVE:This study sought to compare patients with thyroid eye disease (TED) and normal controls with respect to the expression of the NR3C1, CHUK, IKBKB, FOS, NFKB and HSD11B1 genes in orbital fat (OF) and extraocular muscle (EOM). DESIGN AND METHODS:A prospective study design was used to evaluate 34 TED patients a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0945
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:Serum sclerostin levels have been reported to be inversely associated with serum 25OHD levels, but the effect of vitamin D and calcium supplementation on serum sclerostin levels is unknown. This study was carried out to determine whether vitamin D and calcium supplementation altered serum sclerostin levels in...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-13-0862
更新日期:2014-03-13 00:00:00
abstract:OBJECTIVE:Many investigators believe that basal adrenal venous sampling (AVS) should be done simultaneously, whereas others opt for sequential AVS for simplicity and reduced cost. This study aimed to evaluate the concordance of sequential and simultaneous AVS methods. DESIGN AND METHODS:Between 1989 and 2015, bilatera...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0701
更新日期:2017-02-01 00:00:00