abstract：BACKGROUND/AIMS:Insulin-like growth factor (IGF)-I is critical for normal human growth. Extremely rare homozygous mutations of the IGF1 gene severely impair intrauterine growth, intellectual development and postnatal growth. CASE/METHOD: A young male presented with postnatal growth retardation (-4.0 height SDS). His se...

journal_title：Hormone research in paediatrics

authors： Fuqua JS,Derr M,Rosenfeld RG,Hwa V

更新日期：2012-01-01 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

authors： Wasniewska M,Corrias A,Salerno M,Mussa A,Capalbo D,Messina MF,Aversa T,Bombaci S,De Luca F,Valenzise M

更新日期：2012-01-01 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：: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

authors： Ciaccio M,Costanzo M,Guercio G,De Dona V,Marino R,Ramirez PC,Galeano J,Warman DM,Berensztein E,Saraco N,Baquedano MS,Chaler E,Maceiras M,Lazzatti JM,Rivarola MA,Belgorosky A

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

authors： Todorova B,Salonen M,Jääskeläinen J,Tapio A,Jääskeläinen T,Palvimo J,Turpeinen U,Hämäläinen E,Räsänen M,Tenhola S,Voutilainen R

更新日期：2012-01-01 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：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

authors： Jeandron DD,Sahakitrungruang T

更新日期：2012-01-01 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

authors： Michels N,Sioen I,De Vriendt T,Huybrechts I,Vanaelst B,De Henauw S

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

authors： Caliebe J,Broekman S,Boogaard M,Bosch CA,Ruivenkamp CA,Oostdijk W,Kant SG,Binder G,Ranke MB,Wit JM,Losekoot M

更新日期：2012-01-01 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

authors： Wessel T,Balcerek M,Reinmuth S,Hohmann C,Keil T,Henze G,Borgmann-Staudt A

更新日期：2012-01-01 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

authors： Lem AJ,Jobse I,van der Kaay DC,de Ridder MA,Raat H,Hokken-Koelega AC

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND/AIMS:22q11.2 Deletion syndrome is a congenital malformation syndrome with hypoparathyroidism. The spectrum of parathyroid gland dysfunction ranges from severe neonatal hypocalcemia to subclinical hypoparathyroidism. The parathyroid hormone (PTH) secretory reserve is reduced in a significant number of 22q11.2...

journal_title：Hormone research in paediatrics

authors： Nagasaki K,Iwasaki Y,Ogawa Y,Kikuchi T,Uchiyama M

更新日期：2011-01-01 00:00:00

abstract：:The hypothalamic-pituitary-adrenal axis is susceptible to programming during fetal development and may be linked to risk of disease later in life. In a former prospective study the cohort was divided into those born appropriate for gestational age (AGA) or small for gestational age (SGA; birth weight <10 percentile). ...

journal_title：Hormone research in paediatrics

authors： Beck Jensen R,Vielwerth S,Larsen T,Hilsted L,Cohen A,Hougaard DM,Jensen LT,Greisen G,Juul A

更新日期：2011-01-01 00:00:00

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

authors： Janssen JA

更新日期：2011-01-01 00:00:00

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

authors： Cinek O

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: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: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

authors： Chaplin JE,Kriström B,Jonsson B,Hägglöf B,Tuvemo T,Aronson AS,Dahlgren J,Albertsson-Wikland K

更新日期：2011-01-01 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/AIM:It was the aim of this study to evaluate subtle adrenocorticotropic hormone deficiencies in a group of patients with idiopathic growth hormone deficiency and without thyroid-stimulating hormone deficiency. METHODS:Growth hormone and cortisol responses to an insulin tolerance test of 25 patients (15 male...

journal_title：Hormone research in paediatrics

authors： Savas Erdeve S,Ocal G,Berberoglu M,Siklar Z,Hacihamdioglu B

更新日期：2011-01-01 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

authors： De Las Heras J,Lee S,Bacha F,Tfayli H,Arslanian S

更新日期：2011-01-01 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

authors： Hendriks AE,Brown MR,Boot AM,Oostra BA,Drop SL,Parks JS

更新日期：2011-01-01 00:00:00

abstract：:3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities. CUL7 is a stru...

journal_title：Hormone research in paediatrics

authors： Hanson D,Murray PG,Black GC,Clayton PE

更新日期：2011-01-01 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：: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: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：: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

authors： Reisch N,Arlt W,Krone N

更新日期：2011-01-01 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

authors： Reynaud R,Derain-Court J,Braunstein D,Veyrat M,Gaudart J,Giuliano F,Philip N

更新日期：2011-01-01 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

authors： Segni M,di Nardo R,Pucarelli I,Biffoni M

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

authors： Dahlgren J

更新日期：2011-01-01 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

authors： Battelino N,Sebestjen M,Keber I,Blagus R,Hovnik T,Bratina N,Battelino T

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

authors： Tam CS,Garnett SP,Cowell CT,Heilbronn LK,Lee JW,Wong M,Baur LA

更新日期：2010-01-01 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：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:To evaluate the relationship of socioeconomic status (SES) and body mass index (BMI) with skeletal maturation in children from Marrakech (Morocco). METHODS:SES, BMI z-score and bone age (BA) were measured in a cohort of 623 children (280 boys and 343 girls, chronological age (CA) ranged from 6.6 to 18....

journal_title：Hormone research in paediatrics

authors： Chaumoitre K,Lamtali S,Baali A,Saliba-Serre B,Lahmam A,Aboussad A,Boëtsch G,Panuel M

更新日期：2010-01-01 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

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：:For surgery in congenital hyperinsulinism (CHI), a distinct strategy and technique is required for focal, diffuse and atypical types. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT is always indicated in order to cure the patient. In diffuse CHI, however, the results...

journal_title：Hormone research in paediatrics

authors： Barthlen W,Mohnike W,Mohnike K

更新日期：2010-01-01 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

authors： Peters C,Langham S,Mullis PE,Dattani MT

更新日期：2010-01-01 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

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

authors： Chan YM,Fenoglio-Simeone KA,Paraschos S,Muhammad L,Troester MM,Ng YT,Johnsonbaugh RE,Coons SW,Prenger EC,Kerrigan JF Jr,Seminara SB

更新日期：2010-01-01 00:00:00