Abstract:
BACKGROUND/AIMS:Genetic variation in several candidate genes has been associated with short stature. Recently, a high-mobility group A2 (HMGA2) gene SNP has been robustly associated with height in the general population. Only few have attempted to study these genes in extremely tall stature. We therefore studied common genetic variation in candidate genes for height in extremely tall Dutch. METHODS:We included 116 constitutionally tall cases with height >2 SD and 103 controls with normally distributed height <2 SD. We genotyped 10 common polymorphisms previously associated with height variation. RESULTS:The HMGA2 gene SNP was significantly associated with tall stature. Using a logistic regression model, we calculated that carrying the HMGA2 (rs1042725) C allele significantly increased the odds of being tall (OR = 1.53, 95% CI 1.02-2.28; p = 0.03). In addition, controls with one or two copies of the C allele were significantly taller than controls carrying the TT genotype [TC: mean (SD) +0.61 (0.21) SDS; p = 0.004, and CC: +0.77 (0.25) SDS; p = 0.003]. CONCLUSION:Our study shows that a common polymorphism in the HMGA2 gene is not only associated with height variation in the general population but also plays an important role in one of the extremes of the height distribution.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Hendriks AE,Brown MR,Boot AM,Oostra BA,Drop SL,Parks JSdoi
10.1159/000330764subject
Has Abstractpub_date
2011-01-01 00:00:00pages
307-13issue
5eissn
1663-2818issn
1663-2826pii
000330764journal_volume
76pub_type
杂志文章abstract:BACKGROUND AND OBJECTIVE:Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000323441
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Hypercalcemia of immobilization, while rare, may occur in adolescent boys after fracture. Although not fully understood, the mechanism appears to be related to bone turnover uncoupling, in part mediated by upregulation of RANKL. Animal studies suggest that parathyroidectomy suppresses RANKL-stimulated osteoc...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000446316
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND/AIMS:The diagnostic criteria for polycystic ovary syndrome (PCOS) in adolescence are controversial, primarily because the diagnostic pathological features used in adult women may be normal pubertal physiological events. Hence, international pediatric and adolescent specialty societies have defined criteria t...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000375530
更新日期:2015-04-01 00:00:00
abstract:AIM:The aim of this study was to investigate the cardiovascular risk of children with premature adrenarche (PA). METHODS:A total of 75 children (44 with PA and 31 control subjects) aged 6-10 years were included in the study. Their metabolic, anthropometric, and echocardiographic parameters were recorded and compared. ...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000452445
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIMS:Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000437142
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Survivors of childhood with haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) have an increased cardiometabolic risk without overt obesity. AIM:To describe cardiometabolic risk in HSCT/TBI survivors and identify anthropometric measurements of adiposity representative of cardiome...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000455046
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Insulin-like growth factor I (IGF-I) immunoassays are primarily used to estimate IGF-I status. Recently an IGF-I-specific kinase receptor activation assay (KIRA) was developed as an alternative method for measuring IGF-I bioactivity. When compared with IGF-I immunoassays, the IGF-I KIRA has the theoretical a...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000329191
更新日期:2011-01-01 00:00:00
abstract::In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals. We have previously reported extreme within-family variability in affected 46,XY patients. Even though low ovarian reserve with preserved fertili...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000338346
更新日期:2012-01-01 00:00:00
abstract:AIMS:Hyperinsulinemic hypoglycemia (HH) is common in small-for-gestational-age (SGA) neonates. Diazoxide is often used as the first-line medication for HH in SGA neonates. Unfortunately, diazoxide is not authorized in China. We examined the effectiveness of octreotide as an alternative therapy to treat HH in SGA neonat...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000441108
更新日期:2015-01-01 00:00:00
abstract::For surgery in congenital hyperinsulinism (CHI), a distinct strategy and technique is required for focal, diffuse and atypical types. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT is always indicated in order to cure the patient. In diffuse CHI, however, the results...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000321902
更新日期:2010-01-01 00:00:00
abstract:CONTEXT:Short stature homeobox-containing gene (SHOX) variants of unknown clinical significance occur frequently among children with short stature, yet their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) status and response to GH have not been studied. OBJECTIVE:To define GH and IGF-1 status in children wit...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000365507
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND/AIMS:With rising cure rates of childhood cancer, side effects of treatment are attracting increasing interest. The present analysis evaluates the influence of tumor localization, radiotherapy and chemotherapy on the age of menarche. METHODS:4,689 former pediatric oncology patients, diagnosed 1980-2004, were...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000336688
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND/AIM:Four SNPs (E10SNP24, E10SNP158, E12SNP, E33SNP) in the Tg gene are suspected to be involved in the development of autoimmune thyroid diseases. The aim of the study was to determine whether these variants play a role in the development of Hashimoto's thyroiditis in young subjects with type 1 diabetes, in ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000284388
更新日期:2010-01-01 00:00:00
abstract::The preproghrelin gene is responsible for generating ghrelin and obestatin, two gastric peptides with opposite effects on food intake. Obestatin suppresses food intake and digestive motility through interaction with GPR39 (GPCR). Ghrelin is supposed to be a link connecting metabolism and energy homeostasis with growth...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000347218
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND/AIMS:The usefulness of the concept of the metabolic syndrome (MS) in its current form has recently been questioned, and its association with insulin resistance is unknown. We assessed whether a multivariate model based on all components of MS expressed on a continuous scale would be a better predictor of a c...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000327371
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:There are few studies investigating the factors which may affect different biochemical presentations of Hashimoto's thyroiditis (HT) and these are frequently based on limited pediatric populations. AIMS:(1) To assess the frequency of thyroid function patterns at HT diagnosis in 608 children and adolescents,...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
doi:10.1159/000343815
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND/AIMS:To evaluate effects of growth hormone (GH) treatment on behaviour and psychosocial characteristics in short-stature children. METHODS:99 referred prepubertal non-familiar short-stature children (32 GH deficiency; 67 idiopathic short stature) aged 3-11 years, randomized to fixed or individual GH doses a...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1159/000322937
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Aromatase inhibition has been proposed as a potential approach for growth enhancement in children with short stature, but detailed animal studies are lacking. AIM:To assess the effect and potential adverse effects of aromatase inhibition on growth in female rats. METHODS:Prepubertal Wistar rats received in...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000271916
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature. METHODS:Two siblings from a consanguineous Turkish family, a girl aged 13 years (P1) and a boy aged 8 years (P2), presented to their end...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000443684
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Previous studies suggest normal mineral status in children receiving elemental formula. However, a recent multicenter survey described 51 children who developed hypophosphatemia and bone disease while receiving elemental formula. Our aim is to determine the prevalence of metabolic bone disease in children re...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000494726
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Over the past 15 years, the incidence of type 1 diabetes mellitus (T1DM) in Central and Eastern Europe has grown rapidly from an initially low rate. This growth cannot be attributed to genetic factors: it appears that changing environmental exposures are responsible, though no single environmental factor can...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000329168
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND/AIMS:Syndromes of reduced sensitivity to thyroid hormone can be caused by innate resistance to thyroid hormone (RTH), thyroid hormone cell transporter defects, or thyroid hormone metabolism defects. This study was performed to describe clinical, endocrinological, and molecular characteristics of patients wit...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000493468
更新日期:2018-01-01 00:00:00
abstract::The detection of testosterone-producing ovarian tumors in childhood and adolescence by imaging techniques only can be difficult because of the tumors' radiological structure and sometimes diminutive size. We describe an 11.5-year-old girl with a 9-month history of voice deepening, mild hirsutism, minor acne, increased...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000339683
更新日期:2013-01-01 00:00:00
abstract::Leydig cell testicular tumors are very rare in children. They can present as gonadotropin-independent precocious puberty due to excess androgen secretion. We report the case of an 8-year-old boy with isosexual precocity whose hormonal investigation showed luteinizing hormone-independent testosterone hypersecretion. Al...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000358084
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND/AIMS:Vitamin D deficiency is common in children with neurodisabilities. Oral vitamin D3 may not be absorbed appropriately due to dysphagia and tube feeding. The aim of this study was to compare efficacy of vitamin D3 buccal spray with that of oral drops. METHODS:Twenty-four children with neurodisabilities (...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1159/000479690
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIMS:Children with neurofibromatosis type 1 (NF1) tend to be macrocephalic and short. Our aim was to define the incidence and diagnostic accuracy of elevated head circumference-to-height ratio (HCHR) in children with NF1 and to assess if elevated HCHR would facilitate early diagnosis of NF1. METHODS:Retrosp...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1159/000347119
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:A UK study showed final height in Turner syndrome (TS) girls receiving growth hormone is affected by age at pubertal induction and oxandrolone (Ox). Using data from that study, we analysed the effect of timing of oral ethinylestradiol (EE2) and Ox on height velocity (HV), bone maturation and pubertal progres...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1159/000356924
更新日期:2014-01-01 00:00:00
abstract::Minipuberty describes the transient sex-specific activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first 6 months of life in boys and during the first 2 years in girls. It leads to a rise of luteinizing hormone, follicle-stimulating hormone, estradiol, and testosterone. The existence of minipubert...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000508329
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND/AIMS:Newborn screening protocols for congenital hypothyroidism (CH) vary as to whether a TSH or T4 algorithm or some combination is performed. We aimed to determine the 3-year clinical outcome of infants diagnosed with CH and screen-positive for CH using a 2-screen protocol that measures both T4 and TSH on a...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000501395
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Mutations in the imprinted gene MKRN3 have been described as a common genetic cause of idiopathic central precocious puberty (CPP), in particular in familial cases. However, the exact prevalence of mutations is unknown. Single nucleotide polymorphisms in 2 other imprinted genes, DLK1 and KCNK9, have been ass...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000477441
更新日期:2017-01-01 00:00:00