Abstract:
BACKGROUND:Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES:The aim of this study was to investigate the effects of poor metabolic control and/or use of GSD1-specific treatments on bone mineral density (BMD) and metabolism in GSD1 patients. METHODS:In a multicenter, cross-sectional case-control study, we studied 38 GSD1 (29 GSD1a and 9 GSD1b) patients. Clinical, biochemical and instrumental parameters indicative of bone metabolism were analyzed; BMD was evaluated by dual-emission X-ray absorptiometry and quantitative ultrasound. RESULTS:Both GSD1a and GSD1b patients showed reduced BMD compared with age-matched controls. In GSD1a patients, these abnormalities correlated with compliance to diet and biochemical indicators of metabolic control. In GSD1b patients, BMD correlated with the age at first administration and the duration of granulocyte colony-stimulating factor (G-CSF) therapy. CONCLUSIONS:Our data indicate that good metabolic control and compliance with diet are highly recommended to improve bone metabolism in GSD1a patients. GSD1b patients on G-CSF treatment should be carefully monitored for the risk of osteopenia/osteoporosis.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Melis D,Pivonello R,Cozzolino M,Della Casa R,Balivo F,Del Puente A,Dionisi-Vici C,Cotugno G,Zuppaldi C,Rigoldi M,Parini R,Colao A,Andria G,Parenti Gdoi
10.1159/000351022subject
Has Abstractpub_date
2014-01-01 00:00:00pages
55-62issue
1eissn
1663-2818issn
1663-2826pii
000351022journal_volume
81pub_type
杂志文章,多中心研究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:BACKGROUND/AIMS:Lipodystrophy encompasses a group of rare disorders characterized by deficiency of adipose tissue resulting in hypoleptinemia, and metabolic abnormalities including insulin resistance, diabetes, dyslipidemia, and nonalcoholic steatohepatitis. Leptin replacement effectively ameliorates these metabolic de...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000341398
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Significant idiopathic bone age (BA) advancement is defined as BA >2 SD above the mean chronological age (CA) with no underlying etiology. BA advancement due to endocrinopathies is associated with early puberty and compromised adult height (AHt), necessitating treatment. The natural history of idiopathic BA ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000319315
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 investigate health-related quality of life (HRQoL) in short children born small for gestational age (SGA) during growth hormone (GH) treatment and additional postponement of puberty by gonadotropin-releasing hormone analogue (GnRHa). METHODS:HRQoL was studied longitudinally during 2 years of treatment in 97 sh...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000337218
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND/AIMS:The autonomic nervous system (ANS) provides neurogenic control of inflammatory reactions. ANS changes in obesity may result in inflammation. This study sought to gain insight into cardiac autonomic dysfunction and inflammation in childhood obesity, and to gather pilot data on the potential relationship ...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000445685
更新日期:2016-01-01 00:00:00
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...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000330764
更新日期:2011-01-01 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/AIM:Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to prescribing that therapy in the case of short stature and type-1 diabetes (T1DM). METHODS:A questionnaire was sent and if a patient was identified, d...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
doi:10.1159/000360856
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND/AIMS:To study serum testosterone and estradiol in healthy boys in relation to growth during puberty up to peak height velocity (PHV). METHODS:Growth velocity was analyzed through testosterone (n = 41) and 17β-estradiol (n = 37) 24-hour profiles in a dose-response model. Participants were 26 healthy boys adm...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000353761
更新日期:2013-01-01 00:00:00
abstract::Hepatic haemiangiomas in infancy are rare. An association with hypothyroidism has been previously reported and is believed to be secondary to the conversion of thyroxine (fT4) to biologically inactive reverse triiodothyronine (rT3) by type 3 iodothyronine deiodinase (D3). We report a case that responded well to the co...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000281884
更新日期:2010-01-01 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: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:BACKGROUND:3β-hydroxysteroid dehydrogenase (3βHSD) type 2 (encoded by HSD3B2) is expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of congenital adrenal hyperplasia '3βHSD deficiency'. In its classic form, affected individuals have salt wasting early in infancy and may have ambiguous genitalia ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000336004
更新日期:2012-01-01 00:00:00
abstract:INTRODUCTION:Obesity is increasing among the pregnant population. Leptin has an important role in the regulation of energy balance and hunger. The aim of this study was to investigate the association between maternal leptin levels with maternal obesity, gestational weight gain (GWG), single nucleotide polymorphisms (SN...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000503422
更新日期:2019-01-01 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: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....
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000351707
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:Abnormalities in adipose tissue AdipoR1; adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper containing 1 (APPL1); GTPase Rab5; adiponectin; leptin; and visfatin in adults with obesity have been associated with metabolic disturbances. OBJECTIVE:The objective of this study was to ex...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000510851
更新日期:2020-01-01 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/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::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: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:This study aimed to investigate the association of endothelial nitric oxide synthase (eNOS) polymorphisms with impaired endothelium-dependent dilatation (EDD) in a cohort of children and adolescents with type 1 diabetes. METHODS:Ninety-seven children and adolescents with type 1 diabetes underwent ultra...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000329549
更新日期:2011-01-01 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: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::The pathophysiology of type 1 diabetes mellitus (DM) involves the selective autoimmune destruction of the pancreatic beta-cells [Pihoker et al.: Diabetes 2005;54(suppl 2):S52-S61]. The onset of type 1 DM is characterised by hyperglycaemia. Islet cell antibody (ICA), anti-insulin, anti-glutamic acid decarboxylase and t...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000337254
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Most isodicentric (Xp) and (Xq) chromosomes occur as a mosaic with a 45,X cell line. Patients with a nonmosaic 46,X,idic(Xq) are rare. CASES:The first girl was referred at 13 years with a short stature and pubertal delay (M1, P2, A1). Her height was 141.6 cm (-3.1 SDS). Ovarian failure was present. The seco...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000357141
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. METHODS:To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effects of the most relevant variants were analyzed using in silico predict...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000507114
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:The prevalence of food allergy in children is increasing worldwide. Strict avoidance of identified allergens from the diet is still the cornerstone of the management of food allergies. There are widespread concerns that food allergy and elimination diet may predispose children to nutrient deficiencies and gr...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000462973
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:The risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children. CASE DESCRIPTION:We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' di...
journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000491102
更新日期:2019-01-01 00:00:00