abstract：:In newborns and infants, dehydration and salt wasting represent a relatively common cause of admission to hospital and may result in life-threatening complications. Kidneys are responsible for electrolyte homoeostasis, but neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron, leadi...

journal_title：Hormone research in paediatrics

authors： Bizzarri C,Pedicelli S,Cappa M,Cianfarani S

更新日期：2016-01-01 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:Congenital hypothyroidism is a common congenital endocrine disorder prevailing all over the world. No nationwide screening exists for any sub-Saharan country. We present normative cord and capillary thyroid-stimulating hormone (TSH) values for healthy Nigerian newborns. SUBJECTS AND METHODS:A cross-sectiona...

journal_title：Hormone research in paediatrics

authors： Yarhere IE,Jaja T,Oduwole A,Ibekwe MU,Suwaid S,Alkali Y,Adeniran K,Fetuga B,Jarrett OO,Elusiyan JB,Adesiyun O,Idris HW,Blankenstein O,Akani NA

更新日期：2016-01-01 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：CONTEXT:Short stature homeobox-containing gene (SHOX) variants of unknown clinical significance occur frequently among children with short stature, yet their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) status and response to GH have not been studied. OBJECTIVE:To define GH and IGF-1 status in children wit...

journal_title：Hormone research in paediatrics

authors： Shapiro S,Klein GW,Klein ML,Wallach EJ,Fen Y,Godbold JH,Rapaport R

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND/AIMS:The diagnosis of growth hormone (GH) deficiency (GHD) in infancy and early childhood is not straightforward. GH stimulation tests are unsafe and unreliable in infants, and normative data are lacking. This study aims to investigate whether brain magnetic resonance imaging (MRI) may replace GH stimulation...

journal_title：Hormone research in paediatrics

authors： Pampanini V,Pedicelli S,Gubinelli J,Scirè G,Cappa M,Boscherini B,Cianfarani S

更新日期：2015-01-01 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:Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period to explore the gonadotropic axis for assessing the presence of congenital hypogonadotropic hypogonadism (CHH). AIM:To explore the functioning of the h...

journal_title：Hormone research in paediatrics

authors： Braslavsky D,Grinspon RP,Ballerini MG,Bedecarrás P,Loreti N,Bastida G,Ropelato MG,Keselman A,Campo S,Rey RA,Bergadá I

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND/AIMS:Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation ...

journal_title：Hormone research in paediatrics

authors： Saraco N,Nesi-Franca S,Sainz R,Marino R,Marques-Pereira R,La Pastina J,Perez Garrido N,Sandrini R,Rivarola MA,de Lacerda L,Belgorosky A

更新日期：2015-01-01 00:00:00

abstract：:Diabetic ketoacidosis (DKA) may be associated with neurologic complications: the most common is cerebral edema while the risk of venous and arterial stroke is rare. There is a pathogenetic link between DKA, hypercoagulability and stroke, whose risk is underestimated by clinicians. Our cases present a wide spectrum of ...

journal_title：Hormone research in paediatrics

authors： Mozzillo E,D'Amico A,Fattorusso V,Carotenuto B,Buono P,De Nitto E,Falco M,Franzese A

更新日期：2015-01-01 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: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：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：: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：PURPOSE:A high incidence of menstrual problems is reported in adolescent girls, with significant attendant morbidity. The majority are likely to be seen and managed by doctors other than specialist gynaecologists. This study aimed to survey the practice of doctors other than gynaecologists, to establish their chosen th...

journal_title：Hormone research in paediatrics

authors： Neylon OM,Grover SR,Zacharin M

更新日期：2014-01-01 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

authors： Kubota T,Kitaoka T,Miura K,Fujiwara M,Ohata Y,Miyoshi Y,Yamamoto K,Takeyari S,Yamamoto T,Namba N,Ozono K

更新日期：2014-01-01 00:00:00

abstract：:Leydig cell testicular tumors are very rare in children. They can present as gonadotropin-independent precocious puberty due to excess androgen secretion. We report the case of an 8-year-old boy with isosexual precocity whose hormonal investigation showed luteinizing hormone-independent testosterone hypersecretion. Al...

journal_title：Hormone research in paediatrics

authors： Santos-Silva R,Bonito-Vítor A,Campos M,Fontoura M

更新日期：2014-01-01 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/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：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：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 AND AIM:Accelerated weight gain after (adeno)tonsillectomy has been reported in a number of studies. Whether (adeno)tonsillectomy is also a risk factor for development of overweight is unknown. We investigated serum leptin and plasma ghrelin levels before and 1 year after (adeno)tonsillectomy operation in ch...

journal_title：Hormone research in paediatrics

authors： Karalok ZS,Akdag M,Turhan M,Uzun G,Ozdem S,Dinc O,Bircan I

更新日期：2014-01-01 00:00:00

abstract：AIM/BACKGROUND:Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study. METHODS:The study group consisted of 91 pregnant women aged 16-...

journal_title：Hormone research in paediatrics

authors： Yesiltepe Mutlu G,Ozsu E,Kalaca S,Yuksel A,Pehlevan Y,Cizmecioglu F,Hatun S

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:A UK study showed final height in Turner syndrome (TS) girls receiving growth hormone is affected by age at pubertal induction and oxandrolone (Ox). Using data from that study, we analysed the effect of timing of oral ethinylestradiol (EE2) and Ox on height velocity (HV), bone maturation and pubertal progres...

journal_title：Hormone research in paediatrics

authors： Perry RJ,Gault EJ,Paterson WF,Dunger DB,Donaldson MD

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:Early detection of suspected poor adherence to growth hormone (GH) therapy is crucial to achieve normal final height in GH-deficient (GHD) patients. PATIENTS:106 children (73 M, 33 F) with a median age of 10.47±3.48 years (mean±standard deviation score (SDS)) exhibited short stature (-1.76±0.64 SDS) and a d...

journal_title：Hormone research in paediatrics

authors： Bozzola M,Pagani S,Iughetti L,Maffeis C,Bozzola E,Meazza C

更新日期：2014-01-01 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：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

authors： Deodati A,Inzaghi E,Liguori A,Puglianiello A,Germani D,Brufani C,Fintini D,Cappa M,Barbetti F,Cianfarani S

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:The steroidogenic acute regulatory protein (StAR) is essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia. OBJECTIVE AND METHODS:To identify causative mutations in a patient presenting with adrenal failure ...

journal_title：Hormone research in paediatrics

authors： Yüksel B,Kulle AE,Gürbüz F,Welzel M,Kotan D,Mengen E,Holterhus PM,Topaloğlu AK,Grötzinger J,Riepe FG

更新日期：2013-01-01 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：AIMS:To compare adult heights of GH-treated and GH-untreated patients with Silver-Russell syndrome (SRS) who were epigenotyped. METHODS:This was a nonrandomized retrospective study with matched controls at a single center. Molecular analysis of 32 out of 37 GH-treated patients (16 females) revealed IGF2-H19 epimutatio...

journal_title：Hormone research in paediatrics

authors： Binder G,Liebl M,Woelfle J,Eggermann T,Blumenstock G,Schweizer R

更新日期：2013-01-01 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/AIMS:Mutations in the human growth hormone receptor gene (GHR) are the most common cause of growth hormone insensitivity (GHI) syndrome and insulin-like growth factor (IGF-1) deficiency. The extracellular domain of GHR (encoded by exons 2-7 of the GHR gene) can be proteolytically cleaved to circulate as GH-b...

journal_title：Hormone research in paediatrics

authors： Feigerlova E,Swinyard M,Derr MA,Farnsworth J,Andrew SF,Rosenfeld RG,Hwa V

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

authors： Albin AK,Norjavaara E

更新日期：2013-01-01 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

authors： Bossowski A,Czarnocka B,Harasymczuk J,Moniuszko A,Bardadin K,Lyczkowska A,Hanusek K,Bossowska A

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND/AIMS:Primary insulin-like growth factor-1 (IGF-1) deficiency (IGFD) is defined by low levels of IGF-1 without growth hormone (GH) deficiency and absence of secondary causes. The aim of this study was to evaluate IGF-1 in Egyptian children with idiopathic short stature (ISS) and describe patients with IGFD. ...

journal_title：Hormone research in paediatrics

authors： Anwar GM,Kandeel WA,Mandour IA,Kamal AN

更新日期：2013-01-01 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

authors： Gong M,Simaite D,Kühnen P,Heldmann M,Spagnoli F,Blankenstein O,Hübner N,Hussain K,Raile K

更新日期：2013-01-01 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:Treatment with radioiodine for Graves' disease regularly increases the level of antithyroid antibodies, and transplacental passage of stimulating thyrotropin receptor antibodies (TRAb) may cause fetal hyperthyroidism. CASE PRESENTATION:A 21-year-old woman with Graves' disease received radioiodine treatment ...

journal_title：Hormone research in paediatrics

authors： Bjørgaas MR,Farstad H,Christiansen SC,Blaas HG

更新日期：2013-01-01 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 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