IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).

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

authors： Kotnik P,Debeljak M,Avbelj M,Hovnik T,Ursic Bratina N,Krzisnik C,Battelino T

更新日期：2010-01-01 00:00:00

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...

journal_title：Hormone research in paediatrics

authors： 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 G

更新日期：2014-01-01 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

authors： Ramos HE,da Silva MR,Carré A,Silva JC Jr,Paninka RM,Oliveira TL,Tron E,Castanet M,Polak M

更新日期：2015-01-01 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

authors： Kizu R,Nishimura K,Sato R,Kosaki K,Tanaka T,Tanigawara Y,Hasegawa T

更新日期：2017-01-01 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

authors： Rachmiel M,Bistritzer T,Hershkoviz E,Khahil A,Epstein O,Parvari R

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND/AIMS:Type 1 diabetes (T1DM) is associated with gastric autoimmunity, which is characterized by the presence of parietal cell antibodies (APCA). We investigated gastric autoimmunity prevalence in T1DM children, its manifestations, determinants and association with thyroid gland (anti-Tg, anti-TPO) and pancrea...

journal_title：Hormone research in paediatrics

authors： Kakleas K,Kostaki M,Critselis E,Karayianni C,Giannaki M,Anyfantakis K,Haramaras I,Fotinou A,Papathanasiou A,Karavanaki K

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

authors： Dahlgren J

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

authors： Saranac L,Zivanovic S,Bjelakovic B,Stamenkovic H,Novak M,Kamenov B

更新日期：2011-01-01 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

authors： Vos RC,Houdijk EC,van der Kamp HJ,Pijl H,Wit JM

更新日期：2011-01-01 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

authors： Pollock AJ,Seibert TS,Salvatori C,Caturegli P,Allen DB

更新日期：2017-01-01 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

authors： van Gool SA,Wit JM,De Schutter T,De Clerck N,Postnov AA,Kremer Hovinga S,van Doorn J,Veiga SJ,Garcia-Segura LM,Karperien M

更新日期：2010-01-01 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

authors： Pinti E,Piko H,Lengyel A,Luczay A,Karcagi V,Fekete G,Haltrich I

更新日期：2019-01-01 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

authors： Creo AL,Epp LM,Buchholtz JA,Tebben PJ

更新日期：2018-01-01 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

authors： Zucchini S,Iafusco D,Vannelli S,Rabbone I,Salzano G,Pozzobon G,Maghnie M,Cherubini V,Bizzarri C,Bonfanti R,D'Annunzio G,Lenzi L,Maggio MC,Marigliano M,Scaramuzza A,Tumini S,Iughetti L

更新日期：2014-01-01 00:00:00

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

authors： Olivieri A,Fazzini C,Medda E,Italian Study Group for Congenital Hypothyroidism.

更新日期：2015-01-01 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

authors： Savas-Erdeve S,Keskin M,Sagsak E,Cenesiz F,Cetinkaya S,Aycan Z

更新日期：2016-01-01 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

authors： Kamran F,Rother KI,Cochran E,Safar Zadeh E,Gorden P,Brown RJ

更新日期：2012-01-01 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

authors： Çelik N,Alp H,Çamtosun E,Alp E,Çelik S,Berk E

更新日期：2017-01-01 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

authors： Fragoso MCBV,Albuquerque EVA,Cardoso ALA,da Rosa PWL,de Paulo RB,Schimizu MHM,Seguro AC,Passarelli M,Koehler K,Huebner A,Almeida MQ,Latronico AC,Arnhold IJP,Mendonca BB

更新日期：2017-01-01 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

authors： Hursh BE,Fazeli MS,Wang S,Marchant EA,Woo P,Elango R,Lavoie PM,Chanoine JP,Collet JP

更新日期：2016-01-01 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

authors： Druet C,Ong K,Levy Marchal C

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

authors： Kalfa N,Méduri G,Philibert P,Patte C,Boizet-Bonhoure B,Thibaut E,Pienkowski C,Jaubert F,Misrahi M,Sultan C

更新日期：2010-01-01 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

authors： Choi JH,Cho JH,Kim JH,Yoo EG,Kim GH,Yoo HW

更新日期：2018-01-01 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

authors： Albin AK,Norjavaara E

更新日期：2013-01-01 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

authors： Lazar L,Lebenthal Y,Shalitin S,Phillip M

更新日期：2011-01-01 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

authors： Levy A

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND/AIMS:We obtained reference data for testicular volume measured by ultrasound in asymptomatic boys aged 0.5-18 years. In addition, we assessed the validity of the Prader orchidometer per age group by correlating it with the volume measurement by ultrasound. METHODS:The study only included healthy boys with t...

journal_title：Hormone research in paediatrics

authors： Goede J,Hack WW,Sijstermans K,van der Voort-Doedens LM,Van der Ploeg T,Meij-de Vries A,Delemarre-van de Waal HA

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:Effective treatment and close monitoring in children with congenital hyperinsulinism (HI) are important to prevent hypoglycemic-associated brain damage. The current monitoring approach involves measuring plasma glucose intermittently, but this does not provide a comprehensive assessment of glycemic control a...

journal_title：Hormone research in paediatrics

authors： Rayannavar A,Elci OU,Mitteer L,De León DD

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

authors： Penagini F,Borsani B,Maruca K,Giosia V,Bova S,Mastrangelo M,Zuccotti GV,Mora S

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:The flare-up effect of GnRH analogues may cause transient uterine bleeding in girls affected with idiopathic central precocious puberty (ICPP). AIMS:To assess the incidence of endometrial bleeding and verify whether pretreatment with cyproterone acetate could counteract it. METHODS:Fifty-four girls affecte...

journal_title：Hormone research in paediatrics

authors： Seminara S,Nanni L,Generoso M,Mirri S,Leonardi V,Slabadzianiuk T,Vetrano ML,Buongiorno A,Losi S,Galluzzi F

更新日期：2010-01-01 00:00:00