Abstract:
:Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone-beta (TSHB) gene are responsible for isolated CCH. In this paper, we present the cases of two siblings with a novel mutation of TSHB. Direct sequencing of the coding regions and exon/intron boundaries of the TSHB gene revealed two homozygous nucleotides changes. One of them was c.40A>G (rs10776792) which is a very common variation that is also seen in healthy individuals, the other was c.94G>A at codon 32 of exon 2 which resulted in a change from glutamic acid to lysine (p.E32K). Both patients were homozygous and the parents were heterozygous.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Özhan B,Boz Anlaş Ö,Sarıkepe B,Albuz B,Semerci Gündüz Ndoi
10.4274/jcrpe.4595subject
Has Abstractpub_date
2017-09-01 00:00:00pages
278-282issue
3eissn
1308-5727issn
1308-5735journal_volume
9pub_type
杂志文章abstract::Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA. Three pediatric patient...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.969
更新日期:2013-09-10 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:OBJECTIVE:Increasing evidence suggests that T helper (Th) cells play a significant role in the pathogenesis of hypertension. The aim of this study was to evaluate the effect of obesity and anti-hypertensive treatment on urinary Th1 chemokines. METHODS:The study groups consisted of three types of patients: hypertensive...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1917
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:Iodine deficiency and excess are the most important factors that affect screening and recall rates of congenital hypothyroidism. The purpose of this study was to investigate the urinary iodine status in newborns and their mothers and its effects on neonatal thyroid-stimulating hormone (TSH) levels in a mildly...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.997
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:Papillary thyroid cancer (PTC) may behave differently in prepubertal children as compared to pubertal children and adults. BRAF gene activating mutations may associate with PTC by creating aberrant activation. We aimed to evaluate the clinicopathological characteristics of PTC patients with emphasis on the pu...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3873
更新日期:2017-09-01 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:While acute alterations in leptin, insulin, cortisol and growth hormone (GH) levels have been reported in children following weight change interventions, little is known about natural hormonal changes as children grow and how these changes are affected by unprovoked weight status changes. The purpose of this ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v3i1.05
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defe...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1518
更新日期:2014-12-01 00:00:00
abstract::Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocri...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1128
更新日期:2014-01-01 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::Primary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associated with significant morbidity and mortality whenev...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.2017.S002
更新日期:2017-12-30 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:OBJECTIVE:Thyroid abnormalities are common in obese children. The aim of the present study was to examine the prevalence of subclinical hypothyroidism (SH) and to determine how circulating thyroid hormone concentrations correlate with anthropometrics in Danish lean and obese children and adolescents. METHODS:In this c...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3319
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVE:Although vitamin D levels are not routinely monitored in pediatric fracture patients, identification of children with a vitamin D deficiency may be clinically relevant because of the potential role of vitamin D in fracture healing. This study aimed to determine the prevalence of vitamin D deficiency in a pedi...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3474
更新日期:2016-12-01 00:00:00
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. Ora...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1978
更新日期:2015-06-01 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::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:Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals. Methods:The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD in our clinic from 1999 th...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0009
更新日期:2020-11-25 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
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::In 2011, the Department of Health (England) will publish revised You're Welcome criteria. This is the first comprehensive attempt to define good quality health services for young people (11-19 years) and provide a self-assessment tool applicable to all adolescent health services. It builds on a growing understanding o...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.v3i2.10
更新日期:2011-01-01 00:00:00
abstract::Infantile hepatic hemangiomas (IHH), particularly of the diffuse subtype can, in severe cases, be associated with hepatic and cardiac failure, compartment syndrome and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of long-term sequelae. We r...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4865
更新日期:2018-07-31 00:00:00
abstract::Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the TPO gene have been described, resultin...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.2017
更新日期:2015-09-01 00:00:00
abstract:Objective:No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment r...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,多中心研究
doi:10.4274/jcrpe.galenos.2018.2018.0131
更新日期:2019-05-28 00:00:00
abstract:OBJECTIVE:Individuals living at high altitudes are reported to have lower stature and also a smaller chest size in relation to their stature. Altitude-related hypobaric hypoxia is considered to be the major cause of these alterations in growth, but adverse socioeconomic and/or other environmental conditions may also ha...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.559
更新日期:2012-03-01 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:To determine exposure to endocrine-disrupting phthalates in preterm infants in neonatal intensive care units (NICU). METHODS:Urine samples (n=151) from 36 preterm infants (<32 weeks of gestation and/or <1500 g of birth weight) were collected on the first 3 days of admission to the NICU and biweekly thereafte...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3027
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVE:The hypothalamus plays a crucial role in the regulation of feeding behavior. The anorexigenic neuropeptide alpha-melanocyte-stimulating hormone (α-MSH) and the orexigenic neuropeptide agouti-related protein (AgRP) are among the major peptides produced in the hypothalamus. This study investigated the plasma co...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.4274/jcrpe.2136
更新日期:2016-03-05 00:00:00
abstract:OBJECTIVE:This study aimed to measure paraoxonase/arylesterase activities and to evaluate the total oxidant and antioxidant capacities in obese children and in children with metabolic syndrome (MetS). METHODS:A total of 151 children of comparable ages (13.23±1.96 years, 13.45±1.85 years and 13.95±1.31 years) were enro...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.1454
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:This study aimed (a) to investigate the relationship between the degree of obesity and serum adiponectin, tumor necrosis factor (TNF)-α, leptin, insulin levels and the lipid profile; (b) to clarify the relationship between insulin resistance/glucose tolerance and adipocytokine levels; and (c) to investigate t...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v1i5.233
更新日期:2009-01-01 00:00:00