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 whom autoimmune thyroid diseases are significantly more common than in the general population. SUBJECTS AND METHODS:Seventy-six subjects with type 1 diabetes and Hashimoto's thyroiditis and 110 subjects with only type 1 diabetes were studied. Hashimoto's thyroiditis was determined according to the clinical, biochemical and ultrasonographic criteria. SNPs were determined by the TaqMan SNP method. RESULTS:In young subjects with type 1 diabetes, no association between any of the tested SNPs or their combinations and Hashimoto's thyroiditis was found. CONCLUSIONS:This is the first study to investigate the association of SNPs located inside the coding region of the Tg gene with the development of Hashimoto's thyroiditis in subjects with type 1 diabetes. The lack of an association is in concordance with a study where marker Tgms2, located inside intron 27, was not associated with joint susceptibility for autoimmune thyroid disease and type 1 diabetes.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Kotnik P,Debeljak M,Avbelj M,Hovnik T,Ursic Bratina N,Krzisnik C,Battelino Tdoi
10.1159/000284388subject
Has Abstractpub_date
2010-01-01 00:00:00pages
244-7issue
4eissn
1663-2818issn
1663-2826pii
000284388journal_volume
73pub_type
杂志文章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: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::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:INTRODUCTION:Although growth hormone (GH) is essential for attainment of peak bone mass, bone health in prepubertal children with GH deficiency is not routinely evaluated. The objective of this study was to evaluate bone microarchitecture in GH-deficient (GHD) boys using high-resolution peripheral quantitative computed...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000506229
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: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:Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period to explore the gonadotropic axis for assessing the presence of congenital hypogonadotropic hypogonadism (CHH). AIM:To explore the functioning of the h...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000439051
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND/AIMS:Former definitions of metabolic syndrome (MS) in children have been adapted from adult MS definitions using age-related thresholds for each biochemical component, whereas the International Diabetes Federation (IDF) definition is based on absolute values. We compared the IDF childhood MS definition (IDF-...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000284359
更新日期:2010-01-01 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::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/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::Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000485100
更新日期:2018-01-01 00:00:00
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:Altered adrenocortical activity is one suggested mechanism relating small birth size with the metabolic syndrome in adulthood. Adrenal androgen concentrations are higher in children born small (SGA) than appropriate for gestational age (AGA). AIM:To compare adrenocortical hormonal activity between 20-year-o...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000338344
更新日期:2012-01-01 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:BACKGROUND:Ectopic intrathyroidal thymus has recently been reported in children as a cause of surgery and/or invasive diagnostic procedures when mistaken for a thyroid nodule. Thymus has a unique appearance at ultrasound (US). METHODS:We report a follow-up study (mean 34 months, range 6-84) performed by US on 9 childr...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000322441
更新日期:2011-01-01 00:00:00
abstract::Glucocorticoids (GCs), cortisol in humans, influence multiple essential maturational events during gestation. In the human fetus, fetal hypothalamic-pituitary-adrenal (HPA) axis function, fetal adrenal steroidogenesis, placental 11β- hydroxysteroid dehydrogenase type 2 activity, maternal cortisol concentrations, and e...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000488106
更新日期:2018-01-01 00:00:00
abstract::Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CA...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000327794
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:GATA6 mutations are the most frequent cause of pancreatic agenesis and diabetes in human sporadic cases. In families, dominantly inherited mutations show a variable phenotype also in terms of endocrine and exocrine pancreatic disease. We report two novel GATA6 mutations in an independent cohort of 8 children...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000348844
更新日期:2013-01-01 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::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::Diabetic ketoacidosis (DKA) may be associated with neurologic complications: the most common is cerebral edema while the risk of venous and arterial stroke is rare. There is a pathogenetic link between DKA, hypercoagulability and stroke, whose risk is underestimated by clinicians. Our cases present a wide spectrum of ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000382016
更新日期:2015-01-01 00:00:00
abstract:AIMS:To evaluate auxological parameters in children and adults with a 22q11.2 microdeletion syndrome (22q11.2 DS) and to compare prevalence of obesity to that in the French general population. METHODS:102 patients with 22q11.2 DS (49 males, 53 females) were recruited from birth to adulthood through a reference center ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000328454
更新日期:2011-01-01 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:Partial duplication of 2p is a rare condition that causes facial anomalies, psychomotor delay, and growth failure. Hypercalcaemia is rare in children. So far, duplication of 2p has never been associated with hypercalcaemia. METHODS:Here, we report a girl with a partial duplication of 2p presenting with mode...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000442747
更新日期:2016-01-01 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:INTRODUCTION:Thyroid morphogenesis is a complex process. Inwardly rectifying potassium (Kir) genes play a role in hormone release, cell excitability, pH and K(+) homeostasis in many tissues. OBJECTIVES:To investigate the thyroid developmental expression of three members, Kir4.1, Kir4.2 and Kir5.1, in mice. To postulat...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000369251
更新日期:2015-01-01 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: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:AIM/BACKGROUND:Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study. METHODS:The study group consisted of 91 pregnant women aged 16-...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1159/000358833
更新日期:2014-01-01 00:00:00