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 postulate the K(+) channel role in thyroid hormone secretion. MATERIAL AND METHODS:Quantitative RT-PCR analysis of Kir4.1, Kir4.2 and Kir5.1 in mice of different stages (E13.5-E18.5). RESULTS:mRNA for Kir4.1, Kir4.2 and Kir5.1 were identified and increased with age in mice. Both Kir4.1 and Kir4.2 genes are better expressed after E16.5. Kir4.2 greatly increases from E13.5 to E16.5 (p ≤ 0.05). CONCLUSION:Quantitative PCR shows that the mouse thyroid presents increased expression for Kir channels during development. The role of Kir in thyroid morphogenesis and differentiation might be understood in future studies. We speculate that thyroglobulin trafficking might be modulated by Kir4.1/5.1.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Ramos HE,da Silva MR,Carré A,Silva JC Jr,Paninka RM,Oliveira TL,Tron E,Castanet M,Polak Mdoi
10.1159/000369251subject
Has Abstractpub_date
2015-01-01 00:00:00pages
141-7issue
2eissn
1663-2818issn
1663-2826pii
000369251journal_volume
83pub_type
杂志文章abstract:BACKGROUND/AIMS:Over the years a rise in the incidence of congenital hypothyroidism (CH) has been described worldwide. The aim of our study was to investigate trends in the incidence of CH in Italy over the period 1987-2008, and to investigate which factors may have influenced the CH incidence in our country. METHODS:...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000369394
更新日期:2015-01-01 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: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: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::Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes t...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000488034
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND/AIMS:Salivary cortisol has been widely used to assess childhood stress. Yet, there is no consensus on reference concentrations, awakening response, guideline compliance and contribution of sampling factors to the variation in children's salivary cortisol levels. METHODS:Samples were collected from 444 Belgi...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000334412
更新日期:2012-01-01 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: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: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:INTRODUCTION:46,XX ovotesticular disorder of sex development (DSD), as defined by the Chicago consensus in 2006, is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype and a wide phenotypic spectrum from female to male appearance. CASE PRESENTATION:We report ...
journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000503299
更新日期:2019-01-01 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: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::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: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: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:BACKGROUND/AIM:In adults, studies have shown that obesity is a chronic low-grade inflammatory state characterized by altered levels of cytokines. Studies in children have mainly focused on C-reactive protein and adiponectin, and there is limited data for other inflammatory markers in healthy weight and overweight child...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000277632
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Testicular microlithiasis (TM) is characterized by calcium deposits within the seminiferous tubules and is associated with benign and malign conditions. AIM:To determine TM prevalence in patients with congenital adrenal hyperplasia (CAH) and its association with testicular adrenal rest tumors (TART). PATIE...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000313587
更新日期:2010-01-01 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: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::The hypothalamic-pituitary-thyroid axis is a common site of unintended, acquired disease either during or after the treatment of cancer. Children treated with external radiation therapy are at the highest risk for developing a thyroid-related late effect, but thyroid dysfunction and second primary thyroid neoplasms ca...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000495040
更新日期:2019-01-01 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: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: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: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/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/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: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: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: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::Hypothalamic obesity (HO) frequently occurs following damage to the medial hypothalamic region, encompassing the arcuate nucleus, the paraventricular nucleus, the ventromedial nucleus, the dorsomedial nucleus, and the dorsal hypothalamic area, which are critically involved in the regulation of satiety and energy balan...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000496564
更新日期:2019-01-01 00:00:00