Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.

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

authors： Su C,Gong C,Sanger P,Li W,Wu D,Gu Y,Cao B

更新日期：2014-01-01 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：: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

authors： Morsi A,DeFranco D,Witchel SF

更新日期：2018-01-01 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: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：BACKGROUND/AIMS:Children with neurofibromatosis type 1 (NF1) tend to be macrocephalic and short. Our aim was to define the incidence and diagnostic accuracy of elevated head circumference-to-height ratio (HCHR) in children with NF1 and to assess if elevated HCHR would facilitate early diagnosis of NF1. METHODS:Retrosp...

journal_title：Hormone research in paediatrics

authors： Karvonen M,Saari A,Hannila ML,Lönnqvist T,Dunkel L,Sankilampi U

更新日期：2013-01-01 00:00:00

abstract：:The rising incidence of obesity and metabolic diseases such as diabetes mellitus and cardiovascular disease in adolescents and young adults is of grave concern. Recent studies favor a role of lifestyle factors over genetics in the perpetuation of inflammation, insulin resistance and oxidative stress, which are pathoph...

journal_title：Hormone research in paediatrics

authors： Gupta A,Uribarri J

更新日期：2016-01-01 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

authors： Grandone A,Capristo C,Cirillo G,Sasso M,Umano GR,Mariani M,Miraglia Del Giudice E,Perrone L

更新日期：2017-01-01 00:00:00

abstract：:The detection of testosterone-producing ovarian tumors in childhood and adolescence by imaging techniques only can be difficult because of the tumors' radiological structure and sometimes diminutive size. We describe an 11.5-year-old girl with a 9-month history of voice deepening, mild hirsutism, minor acne, increased...

journal_title：Hormone research in paediatrics

authors： Braun R,Peter A,Warmann S,Fuchs J,Binder G

更新日期：2013-01-01 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

authors： Bruzzi P,Sani I,Albanese A

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:Survivors of childhood with haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) have an increased cardiometabolic risk without overt obesity. AIM:To describe cardiometabolic risk in HSCT/TBI survivors and identify anthropometric measurements of adiposity representative of cardiome...

journal_title：Hormone research in paediatrics

authors： Wei C,Hunt L,Cox R,Bradley K,Elson R,Shield J,Stevens M,Crowne E

更新日期：2017-01-01 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：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/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/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/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：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：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: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

authors： Pavić I,Kolaček S

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

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：: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: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: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: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

authors： Choukair D,Eberle B,Vick P,Hermanns P,Weiss B,Paramasivam N,Schlesner M,Lornsen K,Roeth R,Klutmann C,Kreis J,Hoffmann GF,Pohlenz J,Rappold GA,Bettendorf M

更新日期：2020-01-01 00:00:00

abstract：:Regular self-monitoring of blood glucose is crucial for proper insulin dosing and gives a reliable foundation for reasonable glycaemic control. According to recent data, recommended values for glycated haemoglobin A1c as set by the professional associations remain out of the reach for a large proportion of the paediat...

journal_title：Hormone research in paediatrics

authors： Dovč K,Bratina N,Battelino T

更新日期：2015-01-01 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/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

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

authors： de Bruin C,Orbak Z,Andrew M,Hwa V,Dauber A

更新日期：2016-01-01 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：: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