Normative Thyroid-Stimulating Hormone Values for Healthy Nigerian Newborns.

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 risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children. CASE DESCRIPTION:We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' di...

journal_title：Hormone research in paediatrics

authors： Shimura K,Shibata H,Mizuno Y,Amano N,Hoshino K,Kuroda T,Kameyama K,Matsuse M,Mitsutake N,Sugino K,Yoshimura Noh J,Hasegawa T,Ishii T

更新日期：2019-01-01 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: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: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：: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：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: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：BACKGROUND:Most isodicentric (Xp) and (Xq) chromosomes occur as a mosaic with a 45,X cell line. Patients with a nonmosaic 46,X,idic(Xq) are rare. CASES:The first girl was referred at 13 years with a short stature and pubertal delay (M1, P2, A1). Her height was 141.6 cm (-3.1 SDS). Ovarian failure was present. The seco...

journal_title：Hormone research in paediatrics

authors： van der Kamp HJ,Kant SG,Ruivenkamp CA,Gijsbers AC,Haring D,Oostdijk W

更新日期：2014-01-01 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

authors： Vajravelu ME,Congdon M,Mitteer L,Koh J,Givler S,Shults J,De León DD

更新日期：2019-01-01 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:Hypercalcemia of immobilization, while rare, may occur in adolescent boys after fracture. Although not fully understood, the mechanism appears to be related to bone turnover uncoupling, in part mediated by upregulation of RANKL. Animal studies suggest that parathyroidectomy suppresses RANKL-stimulated osteoc...

journal_title：Hormone research in paediatrics

authors： Henry RK,Gafni RI

更新日期：2016-01-01 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：: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

authors： Rafeullah N,Cackett N,Hussain K

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: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：:Loss-of-function mutations in the gene encoding the makorin RING finger protein 3 (MKRN3) have recently been reported to underlie familial cases of central precocious puberty (CPP). The imprinted MKRN3 gene is expressed only from the paternal allele, and mutations inherited from the father affect boys and girls equall...

journal_title：Hormone research in paediatrics

authors： Schreiner F,Gohlke B,Hamm M,Korsch E,Woelfle J

更新日期：2014-01-01 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:Obesity, age and hormone imbalances including hypothyroidism and growth hormone deficiency and therapy, but not gonadotropin-releasing hormone agonist (GnRHa) therapy, have been identified as risk factors for slipped capital femoral epiphysis (SCFE). Five of 7 reported cases describe SCFE in children shortly...

journal_title：Hormone research in paediatrics

authors： Inman M,Hursh BE,Mokashi A,Pinto T,Metzger DL,Cummings EA

更新日期：2013-01-01 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：: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

authors： Abuzzahab MJ,Roth CL,Shoemaker AH

更新日期：2019-01-01 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/AIM:TTF1 and EAP1 are transcription factors that modulate gonadotropin-releasing hormone expression. We investigated the contribution of TTF1 and EAP1 genes to central pubertal disorders. PATIENTS AND METHODS:133 patients with central pubertal disorders were studied: 86 with central precocious puberty and 4...

journal_title：Hormone research in paediatrics

authors： Cukier P,Wright H,Rulfs T,Silveira LF,Teles MG,Mendonca BB,Arnhold IJ,Heger S,Latronico AC,Ojeda SR,Brito VN

更新日期：2013-01-01 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：AIMS:Hyperinsulinemic hypoglycemia (HH) is common in small-for-gestational-age (SGA) neonates. Diazoxide is often used as the first-line medication for HH in SGA neonates. Unfortunately, diazoxide is not authorized in China. We examined the effectiveness of octreotide as an alternative therapy to treat HH in SGA neonat...

journal_title：Hormone research in paediatrics

authors： Pan S,Zhang M,Li Y

更新日期：2015-01-01 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/AIMS:The diagnostic criteria for polycystic ovary syndrome (PCOS) in adolescence are controversial, primarily because the diagnostic pathological features used in adult women may be normal pubertal physiological events. Hence, international pediatric and adolescent specialty societies have defined criteria t...

journal_title：Hormone research in paediatrics

authors： Witchel SF,Oberfield S,Rosenfield RL,Codner E,Bonny A,Ibáñez L,Pena A,Horikawa R,Gomez-Lobo V,Joel D,Tfayli H,Arslanian S,Dabadghao P,Garcia Rudaz C,Lee PA

更新日期：2015-04-01 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

authors： Brightman DS,Lokulo-Sodipe O,Searle BA,Mackay DJG,Davies JH,Temple IK,Dauber A

更新日期：2018-01-01 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