Abstract:
:Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diazoxide is the first-line drug in its treatment, but the more severe cases are usually diazoxide-resistant. Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI. Oral nifedipine has been effective in isolated cases of CHI. Successful treatment of diazoxide-unresponsive CHI with a combination of octreotide and nifedipine has been reported in a single isolated case so far. We report here a case of diazoxide-resistant CHI due to homozygous ABCC8 nonsense mutation. In this case, hypoglycaemia uncontrolled by pancreatectomy and octreotide alone showed a good response to a combination of nifedipine and octreotide. Octreotide was tapered off by one year age and thereafter the child is euglycaemic on oral nifedipine alone. Continuous glucose monitoring sensor was used as an aid to monitor glycaemic control and was found to be a safe and reliable option reducing the number of needle-pricks in small children.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Khawash P,Hussain K,Flanagan SE,Chatterjee S,Basak Ddoi
10.4274/jcrpe.1978subject
Has Abstractpub_date
2015-06-01 00:00:00pages
151-4issue
2eissn
1308-5727issn
1308-5735journal_volume
7pub_type
杂志文章abstract:OBJECTIVE:To explore the effects of maternal high-fat (HF) diet-induced obesity on fetal growth and the expression of placental nutrient transporters. METHODS:Maternal obesity was established in rats by 8 weeks of pre-pregnancy fed HF diet, while rats in the control group were fed normal (CON) diet. Diet-induced obesi...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4510
更新日期:2017-12-15 00:00:00
abstract:OBJECTIVE:To produce weight for length/height (WLH) percentiles to be used for the screening of growth and assessment of failure to thrive in infancy and early childhood. METHODS:The data (2009-2010) of the Anthropometry of Turkish Children aged 0-6 years (ATCA-06) study were used. A cross-sectional study was designed...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1139
更新日期:2013-01-01 00:00:00
abstract::Alström syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus. Affected individuals have normal birth weight, but growth deceleration starts at about 8-10 years of age. In patients with the dis...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v1i6.278
更新日期:2009-01-01 00:00:00
abstract:Objective:Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods:Here we present nationwide initial and follow-up data on HR. Results:From...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0098
更新日期:2020-06-03 00:00:00
abstract::Early detection of abnormal growth, identification of the underlying cause, and appropriate treatment of the medical condition is an important issue for children with short stature. Growth hormone (GH) therapy is widely used in GH-deficient children and also in non-GH-deficient short stature cases who have findings co...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.3209
更新日期:2016-12-01 00:00:00
abstract::Hashitoxicosis is generally differentiated from Graves' hyperthyroidism by its shorter course and absence of ophthalmopathy. In this case report, we describe an adolescent girl who presented with significant clinical findings of hyperthyroidism, a diffuse goiter with homogenously increased uptake in scintigraphy, and ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1450
更新日期:2014-12-01 00:00:00
abstract::Recent studies have shown that small for gestational age (SGA) term infants undergo catch-up growth during infancy but there is limited studies on early growth outcomes of extreme premature SGA infants. The aim of this study was to compare factors associated during birth in extremely premature infants less than 28 wee...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2018.2018.0162
更新日期:2019-02-20 00:00:00
abstract:OBJECTIVE:To estimate the relationship between cord blood bisphenol A (BPA) levels and anogenital measurements in healthy newborns. METHODS:Pregnancy and birth history, together with body mass and length data, anogenital measurements, penile measurements and cord blood samples were obtained from healthy newborns. Cord...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4817
更新日期:2018-03-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to examine the vitamin D status of children and to determine the factors influencing serum 25-hydroxyvitamin D [25(OH)D] concentration in Turkish infants living in İzmir. METHODS:In this study, we examined the serum 25(OH)D levels of 100 infants aged 1 to 24 months and of 22 mothers...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1938
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVE:Recently, scientific interest has focused on the association between osteocalcin, which originates from the skeletal system, and glucose metabolism. Although the association between lipid metabolism, adiponectin, and metabolic syndrome is well known, that between obesity, insulin resistance, and osteocalcin h...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.831
更新日期:2012-12-01 00:00:00
abstract::Permanent neonatal diabetes mellitus (PNDM) is a rare condition presenting before six months of age. Mutations in the genes encoding the ATP-sensitive potassium (KATP) channel are the most common causes. Sulfonylurea (SU) therapy leads to dramatic improvement in diabetes control and quality of life in most patients wh...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.524
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVE:Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS pati...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,多中心研究
doi:10.4274/jcrpe.3013
更新日期:2016-09-01 00:00:00
abstract::Although pregnancy and abortion rates have declined in adolescents, unintended pregnancies remain unacceptably high in this age group. The use of highly effective methods of contraception is one of the pillars of unintended pregnancy prevention and requires a shared decision making process within a rights based framew...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.S0003
更新日期:2020-02-06 00:00:00
abstract:BACKGROUND:Insulin glargine provides effective glycemic control when administered at bedtime in adults. OBJECTIVE:This study aims to investigate whether insulin glargine is equally effective if administered in the morning or at bedtime in combination with preprandial anologue insulin. METHODS:Twenty-eight patients th...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.4008/jcrpe.v1i1.10
更新日期:2008-01-01 00:00:00
abstract::Neurological complications of diabetic ketoacidosis are considered to be a serious clinical problem. The most common complication is cerebral edema. However, these neurological complications also include less common entities such as ischemic or hemorrhagic stroke, cerebral venous and sinus thrombosis or peripheral neu...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.5374
更新日期:2018-07-31 00:00:00
abstract:OBJECTIVE:In adults, it was shown that obesity and insulin resistance affect low-density lipoprotein (LDL) particle size and small dense (sd) LDL is associated with cardiovascular diseases. In this study, we investigated the effect of obesity and insulin resistance on LDL particle size. METHODS:Twenty-six obese childr...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v2i2.63
更新日期:2010-01-01 00:00:00
abstract::Most steroid disorders of the adrenal cortex come to clinical attention in childhood and in order to investigate these problems, there are many challenges to the laboratory which need to be appreciated to a certain extent by clinicians. The analysis of sex steroids in biological fluids from neonates, over adrenarche a...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.v2i1.1
更新日期:2010-01-01 00:00:00
abstract::Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of fingers and toes. Endocrinological phenotypes and outcome of treatment...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type:
doi:10.4274/jcrpe.galenos.2019.2018.0220
更新日期:2019-11-22 00:00:00
abstract::3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiograp...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v3i3.30
更新日期:2011-01-01 00:00:00
abstract::Prevalence of hyperprolactinemia in children with subclinical hypothyroidism (ScH) is not known. This study aimed to determine the occurrence and predictors of hyperprolactinemia in euthyroid children and in children with ScH and overt primary hypothyroidism (OPH). Serum prolactin levels were estimated in consecutive ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4536
更新日期:2017-12-15 00:00:00
abstract:OBJECTIVE:To explore, by conducting a meta-analysis, whether gestational impaired glucose tolerance (IGT) is an independent predictor of neonatal large for gestational age (LGA) or not. METHODS:Medline, Embase, and Cochrane Library databases were searched to identify published epidemiological studies (cohort and case-...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,meta分析
doi:10.4274/jcrpe.2583
更新日期:2016-09-01 00:00:00
abstract::Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in neonates and infants. Current available treatment is subtotal pancreatectomy if the patient does not respond to medical treatment but some of the patients still experience severe hypoglycemia after the surgery. Sirolimus, a...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0033
更新日期:2020-06-02 00:00:00
abstract::A 14-year-old female from Yemen presented with intense abdominal pain and headache. She was born at term to distant cousins, developmentally delayed and significantly dysmorphic. Four years ago, she was diagnosed with diabetes mellitus and undiagnosed hepatic, cardiac, genetic, neurologic, endocrine, musculoskeletal, ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v2i4.176
更新日期:2010-01-01 00:00:00
abstract:Objective:Turner syndrome (TS) is one of the most common chromosomal abnormalities and an important cause of short stature and infertility due to ovarian failure in females. The aim was to evaluate the knowledge of TS among physicians and parents of children with TS and to enhance awareness about this subject. Methods...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0041
更新日期:2020-03-19 00:00:00
abstract::Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1703
更新日期:2015-03-01 00:00:00
abstract:OBJECTIVE:To find out the diagnostic role of kisspeptin and neurokinin B in idiopathic central precocious puberty (ICPP) and premature thelarche (PT). METHODS:The girls who presented with early breast development before the age of 8 years were evaluated. Patients with intracranial pathologies were excluded. Basal and ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3817
更新日期:2017-06-01 00:00:00
abstract:Objective:Soluble CD40 ligand (sCD40L) is elevated in various autoimmune disorders, which may have diagnostic and therapeutic implications. The aims of the current study were to evaluate serum sCD40L concentrations in children with newly diagnosed Graves’ disease (GD) and to correlate its levels with patients’ clinical...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0108
更新日期:2020-06-03 00:00:00
abstract::Our objective is to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males, which so far includes congenital central hypothyroidism, disharmonious pubertal development (normally timed testicular growth, but delayed rise of serum testosterone), macroorchidism, increas...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0125
更新日期:2020-10-13 00:00:00
abstract::Several studies have shown that small for gestational age (SGA) babies have a different hormonal profile than those born with a birth weight appropriate for gestational age (AGA). Thyroid hormones play an important role in growth and neurocognitive development. Only few studies analyzed the concentrations of thyroid-s...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.846
更新日期:2013-01-01 00:00:00
abstract::22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4008/jcrpe.v1i3.46
更新日期:2009-01-01 00:00:00