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 tests in the diagnosis of GHD in children younger than 4 years. METHODS:We examined a retrospective cohort, with longitudinal follow-up, of 68 children consecutively diagnosed with GHD before the age of 4 years. The prevalence of hypothalamic-pituitary (HP) alterations at MRI and the associations with age and either isolated GHD (IGHD) or multiple pituitary hormone deficiency (MPHD) were assessed. RESULTS:The prevalences of IGHD and MPHD were 54.4 and 45.6%, respectively. In the first group, brain MRI showed abnormalities in 83.8%: isolated pituitary hypoplasia in 48.7% and complex defects in 35.1%. In patients with MPHD, MRI showed complex alterations in 100%. All children younger than 24 months showed HP MRI abnormalities, regardless of the diagnosis. Complex defects were found in 94% of patients younger than 12 months and in 75% of patients between 13 and 24 months. CONCLUSION:Our data suggest that brain MRI may represent the first-line investigation for diagnosing GHD in infancy and early childhood.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Pampanini V,Pedicelli S,Gubinelli J,Scirè G,Cappa M,Boscherini B,Cianfarani Sdoi
10.1159/000439590subject
Has Abstractpub_date
2015-01-01 00:00:00pages
323-30issue
5eissn
1663-2818issn
1663-2826pii
000439590journal_volume
84pub_type
杂志文章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
pub_type: 杂志文章
doi:10.1159/000319315
更新日期:2011-01-01 00:00:00
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
更新日期:2016-01-01 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
pub_type: 杂志文章
doi:10.1159/000330764
更新日期:2011-01-01 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
pub_type: 杂志文章
doi:10.1159/000337218
更新日期:2012-01-01 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
pub_type: 杂志文章
doi:10.1159/000321902
更新日期:2010-01-01 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
pub_type: 临床试验
doi:10.1159/000491105
更新日期:2019-01-01 00:00:00
abstract:INTRODUCTION:Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients' fibroblasts in vitro, may be a central disease mechanis...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000465520
更新日期:2017-01-01 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
pub_type: 杂志文章
doi:10.1159/000353761
更新日期:2013-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000462973
更新日期:2017-01-01 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
pub_type: 杂志文章
doi:10.1159/000329168
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
pub_type: 杂志文章,评审
doi:10.1159/000330165
更新日期:2011-01-01 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
pub_type: 杂志文章
doi:10.1159/000355404
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND/AIMS:Youth with type 2 diabetes (T2D) have poor compliance with medical care. This study aimed to determine which demographic and clinical factors differ between youth with T2D who receive care in a pediatric diabetes center versus youth lost to follow-up for >18 months. METHODS:Data were analyzed from 496 ...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1159/000475595
更新日期:2017-01-01 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
pub_type: 临床试验,杂志文章
doi:10.1159/000354658
更新日期:2013-01-01 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
pub_type: 杂志文章
doi:10.1159/000443684
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Partial duplication of 2p is a rare condition that causes facial anomalies, psychomotor delay, and growth failure. Hypercalcaemia is rare in children. So far, duplication of 2p has never been associated with hypercalcaemia. METHODS:Here, we report a girl with a partial duplication of 2p presenting with mode...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000442747
更新日期:2016-01-01 00:00:00
abstract::Minipuberty describes the transient sex-specific activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first 6 months of life in boys and during the first 2 years in girls. It leads to a rise of luteinizing hormone, follicle-stimulating hormone, estradiol, and testosterone. The existence of minipubert...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000508329
更新日期:2020-01-01 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
pub_type: 杂志文章
doi:10.1159/000351707
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
pub_type: 杂志文章
doi:10.1159/000440956
更新日期:2015-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000324442
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
pub_type:
doi:10.1159/000329114
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
pub_type: 杂志文章,评审
doi:10.1159/000488106
更新日期:2018-01-01 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
pub_type: 临床试验,杂志文章
doi:10.1159/000356920
更新日期:2014-01-01 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
pub_type: 杂志文章,评审
doi:10.1159/000327794
更新日期:2011-01-01 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
pub_type: 临床试验,杂志文章
doi:10.1159/000455046
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND/AIMS:The autonomic nervous system (ANS) provides neurogenic control of inflammatory reactions. ANS changes in obesity may result in inflammation. This study sought to gain insight into cardiac autonomic dysfunction and inflammation in childhood obesity, and to gather pilot data on the potential relationship ...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000445685
更新日期:2016-01-01 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
pub_type: 杂志文章
doi:10.1159/000323441
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND/AIMS:Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in orde...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000475991
更新日期:2017-01-01 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
pub_type: 临床试验,杂志文章
doi:10.1159/000341398
更新日期:2012-01-01 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
pub_type: 杂志文章
doi:10.1159/000339683
更新日期:2013-01-01 00:00:00