当前位置： SCI文献检索 > Hormone Research in Paediatrics期刊下所有文献 > Reversible Growth Hormone Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma.

Reversible Growth Hormone Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma.

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 axis after stopping SSa therapy. METHODS:The diagnosis of GH excess was established from auxological data, persistently high levels of insulin-like growth factor 1 (IGF-1) and a lack of GH suppression during an oral glucose tolerance test. RESULTS:Both patients were started on SSa treatment. During treatment, growth deceleration and normal IGF-1 levels were documented. The first case stopped treatment following the development of SSa side effects. The second case interrupted SSa when, closed to her final height, a normal IGF-1 level was documented. While off treatment, both cases maintained normal IGF-1 levels and appropriate growth velocity for their age and development, with normal GH secretion on biochemical testing. Both cases received treatment for central precocious puberty. CONCLUSION:GH excess in NF-1 children with OPG can be reversed and only short-term SSa therapy may be required. The aetiology remains undetermined, but the course suggests a hypothalamic dysfunction.

journal_name

Horm Res Paediatr

journal_title

Hormone research in paediatrics

authors

Bruzzi P,Sani I,Albanese A

doi

10.1159/000440956

subject

Has Abstract

pub_date

2015-01-01 00:00:00

pages

414-22

issue

6

eissn

1663-2818

issn

1663-2826

pii

000440956

journal_volume

84

pub_type

杂志文章

相关文献

Hormone Research in Paediatrics文献大全
  • Experience of Octreotide Therapy for Hyperinsulinemic Hypoglycemia in Neonates Born Small for Gestational Age: A Case Series.

    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

    pub_type： 杂志文章

    doi：10.1159/000441108

    authors： Pan S,Zhang M,Li Y

    更新日期：2015-01-01 00:00:00

  • Effect of oxandrolone and timing of oral ethinylestradiol initiation on pubertal progression, height velocity and bone maturation in the UK Turner study.

    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

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1159/000356924

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

    更新日期：2014-01-01 00:00:00

  • Genetic variation in candidate genes like the HMGA2 gene in the extremely tall.

    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

    pub_type： 杂志文章

    doi：10.1159/000330764

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

    更新日期：2011-01-01 00:00:00

  • An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.

    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

    pub_type： 杂志文章

    doi：10.1159/000437142

    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

  • Pubertal growth and serum testosterone and estradiol levels in boys.

    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

    pub_type： 杂志文章

    doi：10.1159/000353761

    authors： Albin AK,Norjavaara E

    更新日期：2013-01-01 00:00:00

  • Molecular and trophic mechanisms of pituitary tumourigenesis.

    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

    pub_type：

    doi：10.1159/000329114

    authors： Levy A

    更新日期：2011-01-01 00:00:00

  • Pseudoisodicentric Xp chromosome [46,X,psu idic(X)(q21.1)] and its effect on growth and pubertal development.

    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

    pub_type： 杂志文章

    doi：10.1159/000357141

    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

  • Effects of Recombinant Human Growth Hormone in Children with Crohn's Disease on the Muscle-Bone Unit: A Preliminary Study.

    abstract：BACKGROUND/AIMS:There is limited information on the impact of recombinant human growth hormone (rhGH) on the muscle-bone unit in children with Crohn's disease (CD). In this pilot study, we report on the effects of rhGH on bone formation, dual-energy X-ray absorptiometry (DXA) total body (TB) bone mineral density adjust...

    journal_title：Hormone research in paediatrics

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1159/000492398

    authors： Altowati MA,Shepherd S,McGrogan P,Russell RK,Ahmed SF,Wong SC

    更新日期：2018-01-01 00:00:00

  • Influence of fetal growth velocity and smallness at birth on adrenal function in adolescence.

    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

    pub_type： 杂志文章

    doi：10.1159/000315656

    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

  • Cerebral Accidents in Pediatric Diabetic Ketoacidosis: Different Complications and Different Evolutions.

    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

    pub_type： 杂志文章

    doi：10.1159/000382016

    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

  • Metabolic syndrome in children: comparison of the International Diabetes Federation 2007 consensus with an adapted National Cholesterol Education Program definition in 300 overweight and obese French children.

    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

    pub_type： 杂志文章

    doi：10.1159/000284359

    authors： Druet C,Ong K,Levy Marchal C

    更新日期：2010-01-01 00:00:00

  • Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.

    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

    pub_type： 杂志文章

    doi：10.1159/000348844

    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

  • IGF2 methylation is associated with lipid profile in obese children.

    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

    pub_type： 杂志文章

    doi：10.1159/000351707

    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

  • Thyroid Ultrasound: More Sensitive than Radioactive Iodine Imaging in Detecting Recurrence of Papillary Thyroid Cancer in Two Pediatric Patients.

    abstract：BACKGROUND:Papillary thyroid cancer (PTC) is an uncommon pediatric disease with an excellent prognosis. In follow-up surveillance, neck ultrasound (US), basal and thyroid-stimulating hormone-stimulated serum thyroglobulin (Tg) levels, and diagnostic whole-body radioactive iodine scans (DxWBS) have been traditionally us...

    journal_title：Hormone research in paediatrics

    pub_type：

    doi：10.1159/000487436

    authors： Wise-Oringer BK,Goldis M,Regelmann MO,Klein M,Machac J,Kotlus Rosenberg H,Rapaport R

    更新日期：2018-01-01 00:00:00

  • Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

    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

    pub_type： 临床试验,杂志文章

    doi：10.1159/000338346

    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

  • Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

    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

    pub_type： 杂志文章,多中心研究

    doi：10.1159/000351022

    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

  • Brain Magnetic Resonance Imaging as First-Line Investigation for Growth Hormone Deficiency Diagnosis in Early Childhood.

    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

    pub_type： 杂志文章

    doi：10.1159/000439590

    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

  • Epidemiology of childhood type 1 diabetes mellitus: lessons from Central and Eastern European data.

    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

    pub_type： 杂志文章

    doi：10.1159/000329168

    authors： Cinek O

    更新日期：2011-01-01 00:00:00

  • Adrenocortical hormonal activity in 20-year-old subjects born small or appropriate for gestational age.

    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

    pub_type： 杂志文章

    doi：10.1159/000338344

    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

  • Adiponectin Signaling and Impaired GTPase Rab5 Expression in Adipocytes of Adolescents with Obesity.

    abstract：INTRODUCTION:Abnormalities in adipose tissue AdipoR1; adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper containing 1 (APPL1); GTPase Rab5; adiponectin; leptin; and visfatin in adults with obesity have been associated with metabolic disturbances. OBJECTIVE:The objective of this study was to ex...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000510851

    authors： Karvela A,Kostopoulou E,Rojas Gil AP,Avgeri A,Pappa A,Barrios V,Lambrinidis G,Dimopoulos I,Georgiou G,Argente J,Spiliotis B

    更新日期：2020-01-01 00:00:00

  • Gonadotropin-dependent precocious puberty in an 8-year-old boy with leydig cell testicular tumor.

    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

    pub_type： 杂志文章

    doi：10.1159/000358084

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

    更新日期：2014-01-01 00:00:00

  • Monogenic Disorders of Adrenal Steroidogenesis.

    abstract：:Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes t...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000488034

    authors： Baranowski ES,Arlt W,Idkowiak J

    更新日期：2018-01-01 00:00:00

  • Hypothalamic Obesity: Prologue and Promise.

    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

    pub_type： 杂志文章,评审

    doi：10.1159/000496564

    authors： Abuzzahab MJ,Roth CL,Shoemaker AH

    更新日期：2019-01-01 00:00:00

  • Impact of Endocrine Disruptors on the Thyroid Hormone System.

    abstract：:The thyroid hormone (TH) system plays a central role in central physiological processes of many species, including mammals and humans, ranging from growth and cell differentiation, energy metabolism, thermoregulation and phasing of hibernation or annual movements of migratory species, metamorphosis from larvae to adul...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000443501

    authors： Gutleb AC,Cambier S,Serchi T

    更新日期：2016-01-01 00:00:00

  • Insulin-like growth factor I: pros and cons of a bioassay.

    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

    pub_type： 杂志文章

    doi：10.1159/000329191

    authors： Janssen JA

    更新日期：2011-01-01 00:00:00

  • Why is the thyroid so prone to autoimmune disease?

    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

    pub_type： 杂志文章,评审

    doi：10.1159/000324442

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

    更新日期：2011-01-01 00:00:00

  • Hair Cortisol Concentration in Healthy Children and Adolescents Is Related to Puberty, Age, Gender, and Body Mass Index.

    abstract：INTRODUCTION:Hair cortisol concentrations (HCC) have been found to be related to various common childhood diseases, like otitis media, conjunctivitis, respiratory viral infections, and asthma. However, the confounding effects of age, gender, body mass index (BMI), pubertal stage (Tanner stages), socioeconomic status (S...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000504914

    authors： Wagner M,Kratzsch J,Vogel M,Peschel T,Gaudl A,Ceglarek U,Thiery J,Hiemisch A,Körner A,Kiess W

    更新日期：2019-01-01 00:00:00

  • Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature.

    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

    pub_type： 杂志文章

    doi：10.1159/000337249

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

    更新日期：2012-01-01 00:00:00

  • Correlation between Cosyntropin Stimulation Study and Disease Severity in Children with Fluid- and Catecholamine-Refractory Shock in the Pediatric and Cardiovascular Intensive Care Unit.

    abstract：BACKGROUND:The cosyntropin stimulation study (CSS) measures the patient's ability to adequately mount a cortisol response. Clinically, CSS results may not be used to guide hydrocortisone use. The objective of this study was to examine how the CSS results are associated with clinical parameters, mortality/disease severi...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000484561

    authors： Iyer P,Harrington B,Fadrowski JJ,Sibinga E,Amankwah EK

    更新日期：2018-01-01 00:00:00

  • Water Balance and 'Salt Wasting' in the First Year of Life: The Role of Aldosterone-Signaling Defects.

    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

    pub_type： 杂志文章

    doi：10.1159/000449057

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

    更新日期：2016-01-01 00:00:00