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 order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS:A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene. RESULTS:GHR mutations were identified in 34 patients from 22 separate nuclear families. All 34 molecularly confirmed patients had the typical clinical and endocrinological manifestations of LS. Eleven different mutations (9 previously unreported) were detected in this cohort of patients, all inherited in an autosomal recessive homozygous form. No genotype/phenotype correlation was apparent. CONCLUSION:The identification of pathogenic mutations causing LS will be of tremendous use for the molecular diagnosis of patients in Saudi Arabia and the region in general, with respect to prevention of this disease in the forms of future carrier testing, prenatal testing, premarital screening and preimplantation genetic diagnosis.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Al-Ashwal AA,Al-Sagheir A,Ramzan K,Al-Owain M,Allam R,Qari A,Al-Numair NS,Imtiaz Fdoi
10.1159/000475991subject
Has Abstractpub_date
2017-01-01 00:00:00pages
119-126issue
2eissn
1663-2818issn
1663-2826pii
000475991journal_volume
88pub_type
杂志文章abstract:AIM:The aim of this study was to investigate the cardiovascular risk of children with premature adrenarche (PA). METHODS:A total of 75 children (44 with PA and 31 control subjects) aged 6-10 years were included in the study. Their metabolic, anthropometric, and echocardiographic parameters were recorded and compared. ...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000452445
更新日期:2017-01-01 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
pub_type: 杂志文章
doi:10.1159/000319315
更新日期:2011-01-01 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
pub_type: 杂志文章
doi:10.1159/000347218
更新日期:2013-01-01 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
pub_type: 杂志文章
doi:10.1159/000446316
更新日期:2016-01-01 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
pub_type: 杂志文章,多中心研究
doi:10.1159/000360856
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:The flare-up effect of GnRH analogues may cause transient uterine bleeding in girls affected with idiopathic central precocious puberty (ICPP). AIMS:To assess the incidence of endometrial bleeding and verify whether pretreatment with cyproterone acetate could counteract it. METHODS:Fifty-four girls affecte...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000308172
更新日期:2010-01-01 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
pub_type: 杂志文章,多中心研究
doi:10.1159/000343815
更新日期:2012-01-01 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
pub_type: 临床试验,杂志文章
doi:10.1159/000338346
更新日期:2012-01-01 00:00:00
abstract:INTRODUCTION:Although growth hormone (GH) is essential for attainment of peak bone mass, bone health in prepubertal children with GH deficiency is not routinely evaluated. The objective of this study was to evaluate bone microarchitecture in GH-deficient (GHD) boys using high-resolution peripheral quantitative computed...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000506229
更新日期:2019-01-01 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
pub_type: 杂志文章
doi:10.1159/000494726
更新日期:2018-01-01 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
pub_type: 杂志文章
doi:10.1159/000351028
更新日期:2013-01-01 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:BACKGROUND:Diazoxide is the first-line treatment for pediatric hyperinsulinemic hypoglycemia (HI). This study aimed to elucidate the pharmacokinetics of diazoxide in children with HI. METHODS:We obtained 81 blood samples from 22 children with HI. Measured serum diazoxide concentrations were used for population pharmac...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000478696
更新日期:2017-01-01 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
pub_type: 杂志文章
doi:10.1159/000477441
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
pub_type: 杂志文章
doi:10.1159/000339683
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
pub_type: 杂志文章,评审
doi:10.1159/000444053
更新日期:2016-01-01 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::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
更新日期:2016-01-01 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/AIM:In adults, studies have shown that obesity is a chronic low-grade inflammatory state characterized by altered levels of cytokines. Studies in children have mainly focused on C-reactive protein and adiponectin, and there is limited data for other inflammatory markers in healthy weight and overweight child...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000277632
更新日期:2010-01-01 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
pub_type: 杂志文章
doi:10.1159/000281884
更新日期:2010-01-01 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: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
pub_type: 杂志文章
doi:10.1159/000369251
更新日期:2015-01-01 00:00:00
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
更新日期:2019-01-01 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
pub_type: 杂志文章,随机对照试验
doi:10.1159/000479690
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Testicular microlithiasis (TM) is characterized by calcium deposits within the seminiferous tubules and is associated with benign and malign conditions. AIM:To determine TM prevalence in patients with congenital adrenal hyperplasia (CAH) and its association with testicular adrenal rest tumors (TART). PATIE...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000313587
更新日期:2010-01-01 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
pub_type: 杂志文章
doi:10.1159/000369394
更新日期:2015-01-01 00:00:00
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
更新日期:2018-01-01 00:00:00
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
更新日期:2011-01-01 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
pub_type: 杂志文章
doi:10.1159/000348844
更新日期:2013-01-01 00:00:00