Abstract:
AIM:Our aim was to investigate the relationships between the degree of IGF2 methylation and the metabolic status in obese children and adolescents. SUBJECTS AND METHODS:Eighty-five obese subjects aged 11.6 ± 2.1 years were studied. Anthropometry, metabolic parameters, blood pressure and body composition were assessed. DNA methylation analysis was performed by restriction enzyme digestion assay. The study population was subdivided into two groups according to the percentage of IGF2 cytidine-guanosine (CpG) island methylation. RESULTS:Twenty-two subjects showed intermediate methylation (a percentage of CpG site methylation comprised between 10 and 60%), 56 were hypomethylated (percentage of methylation lower than 10%), and only 1 showed a high rate of hypermethylation (percentage of methylation above 60%). Children with intermediate methylation showed significantly higher levels of triglycerides (107.6 ± 41.99 vs. 76.6 ± 30.18 mg/dl, p < 0.005) and a higher triglyceride/high-density lipoprotein-cholesterol ratio (2.23 ± 0.98 vs. 1.79 ± 0.98, p < 0.02) compared with hypomethylated children. CONCLUSIONS:These preliminary findings show for the first time a relationship between IGF2 methylation pattern and lipid profile in obese children. Although the correlation does not imply causation, if our findings are confirmed in further studies, IGF2 methylation might represent an epigenetic marker of metabolic risk.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Deodati A,Inzaghi E,Liguori A,Puglianiello A,Germani D,Brufani C,Fintini D,Cappa M,Barbetti F,Cianfarani Sdoi
10.1159/000351707subject
Has Abstractpub_date
2013-01-01 00:00:00pages
361-7issue
6eissn
1663-2818issn
1663-2826pii
000351707journal_volume
79pub_type
杂志文章abstract:BACKGROUND/AIMS:Because the criteria for genetic screening of short children are unknown, we performed genetic analysis of 199 short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature, ISS). METHODS:After selection with a modified scoring system for SHOX and a novel score...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000338341
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND/AIMS:There is limited information on the impact of recombinant human growth hormone (rhGH) on the muscle-bone unit in children with Crohn's disease (CD). In this pilot study, we report on the effects of rhGH on bone formation, dual-energy X-ray absorptiometry (DXA) total body (TB) bone mineral density adjust...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1159/000492398
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND/AIMS:We aimed to investigate whether the anti-Müllerian hormone (AMH) levels in adolescents with polycystic ovary syndrome (PCOS), PCOS risk, and isolated oligomenorrhea (OM) were different than in adolescents with a normal/regular menstrual cycle (NMC). METHODS:The diagnosis of PCOS was based on the 2012 A...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000446111
更新日期:2016-01-01 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:The paradox of pituitary tumours is that persistent growth is so atypical. By definition, all pituitary microadenomas regain complete trophic stability after an initial period of deregulated growth. Unlike tumours in many other organ systems, concern about significant growth of macroadenoma remnants after de...
journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000329114
更新日期:2011-01-01 00:00:00
abstract::The thyroid gland plays a major role in the human body; it produces the hormones necessary for appropriate energy levels and an active life. These hormones have a critical impact on early brain development and somatic growth. At the same time, the thyroid is highly vulnerable to autoimmune thyroid diseases (AITDs). Th...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000324442
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::The US Food and Drug Administration approved use of recombinant human growth hormone (GH) for the treatment of idiopathic short stature (ISS) in children; however, few studies have evaluated metabolic outcomes. This article addresses whether children with ISS treated with GH experience the same metabolic benefits as c...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000330165
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Hyperandrogenism is a rare symptom of juvenile ovarian granulosa cell- tumors (JGCTO). This study aimed to determine whether hyperandrogenism was related to overexpression of SOX9, decreased expression of FOXL2 or absent aromatase expression in tumor with particular scheme of expression of P450scc and P450c1...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000313396
更新日期:2010-01-01 00:00:00
abstract::Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center's HI team uses dextrose solution given continuously via gastric tube (intrasgastric dextrose, IGD) for infants not fully responsive to conven...
journal_title:Hormone research in paediatrics
pub_type: 临床试验
doi:10.1159/000491105
更新日期:2019-01-01 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: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:INTRODUCTION:Testicular adrenal rest tumors (TART) are a known consequence for males with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. TART are associated with potential infertility in adults. However, little is known about TART in very young males with CAH. OBJECTIVE:We assessed th...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000504135
更新日期:2019-01-01 00:00:00
abstract::The diagnosis of childhood-onset growth hormone (GH) deficiency (GHD) is not straightforward, requiring a comprehensive clinical, anthropometric, biochemical, endocrine, and neuroradiological assessment. Although pharmacological GH stimulation tests are still considered the gold standard for GHD diagnosis, they are bu...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000314895
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND/AIMS:The diagnosis of growth hormone (GH) deficiency (GHD) in infancy and early childhood is not straightforward. GH stimulation tests are unsafe and unreliable in infants, and normative data are lacking. This study aims to investigate whether brain magnetic resonance imaging (MRI) may replace GH stimulation...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000439590
更新日期:2015-01-01 00:00:00
abstract:INTRODUCTION:Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients' fibroblasts in vitro, may be a central disease mechanis...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000465520
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIMS:Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restric...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1159/000496700
更新日期:2018-01-01 00:00:00
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:OBJECTIVES:Long-term clinical follow-up and mutation analysis were performed in 27 Chinese congenital hyperinsulinism patients. METHOD:27 hypoglycemia patients were diagnosed with CHI within 2 years of age. The long-term clinical outcome was analyzed and mutation analysis of 5 hyperinsulinism candidate genes was perfo...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000356911
更新日期:2014-01-01 00:00:00
abstract:AIMS:To examine the cross-sectional relationship between blood pressure (BP) and (1) in vivo insulin sensitivity (IS) and (2) circulating adiponectin levels in overweight adolescents, and to determine if these relationships are driven by adiposity. METHODS:Sixty-five white pubertal overweight adolescents underwent a h...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000331462
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Diazoxide is the first-line treatment for pediatric hyperinsulinemic hypoglycemia (HI). This study aimed to elucidate the pharmacokinetics of diazoxide in children with HI. METHODS:We obtained 81 blood samples from 22 children with HI. Measured serum diazoxide concentrations were used for population pharmac...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000478696
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIMS:Autoimmune hypophysitis (AH) is a rare inflammatory disease of the pituitary gland causing varying degrees of hypopituitarism and/or sellar compression. Cranial MRI remains the best noninvasive tool to diagnose AH, although a diagnosis of certainty requires pituitary biopsy. The objective of this study ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000446912
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIMS:Hypothalamic hamartomas are the most common identifiable cause of central precocious puberty (CPP). Hamartoma characteristics proposed to be associated with CPP include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor alpha ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000308162
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND/AIMS:Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in orde...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000475991
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:A total of 12 children with neurofibromatosis type 1 (NF-1) with optic pathway glioma (OPG) and growth hormone (GH) excess are reported to date, but no data exist on the long-term outcome. We describe 2 girls with NF-1 with OPG and GH excess treated with somatostatin analogue (SSa) who maintained a normal GH...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000440956
更新日期:2015-01-01 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
abstract::Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunct...
journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000501169
更新日期:2019-01-01 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/AIMS:Vitamin D-deficient rickets (DR) has recently re-emerged among developed countries. Vitamin D deficiency can influence biochemical results of patients with fibroblast growth factor 23 (FGF23)-related hereditary hypophosphatemic rickets (HR), making differential diagnosis difficult. In the present study ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000357142
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND/AIM:TTF1 and EAP1 are transcription factors that modulate gonadotropin-releasing hormone expression. We investigated the contribution of TTF1 and EAP1 genes to central pubertal disorders. PATIENTS AND METHODS:133 patients with central pubertal disorders were studied: 86 with central precocious puberty and 4...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000354643
更新日期:2013-01-01 00:00:00