Critical points in the management of pseudohypoaldosteronism type 1.

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

authors： Ye K,Li L,Zhang D,Li Y,Wang HQ,Lai HL,Hu CL

更新日期：2017-12-15 00:00:00

abstract：OBJECTIVE:In this study, we aimed to investigate the association of W64R polymorphism of the β3-adrenergic receptor gene (β-3AR) with childhood obesity and related pathologies. METHODS:β-3AR gene W64R genotyping was carried out in 251 children aged 6-18 years. Of these subjects, 130 were obese (62 boys) and 121 were n...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Verdi H,Tulgar Kınık S,Yılmaz Yalçın Y,Muratoğlu Şahin N,Yazıcı AC,Ataç FB

更新日期：2015-03-01 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

authors： Zhang X,Fan Y,Liu X,Zhu MA,Sun Y,Yan H,He Y,Ye X,Gu X,Yu Y

更新日期：2019-11-22 00:00:00

abstract：:The enzyme 17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) catalyzes the biosynthesis of testosterone from Δ4-androstenedione, and plays an important role in the final steps of androgen synthesis. 17β-HSD3 deficiency originates from mutations in the HSD17B gene, causing an autosomal recessive 46, XY sex developmen...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Çiftci N,Kayaş L,Çamtosun E,Akıncı A

更新日期：2021-01-04 00:00:00

abstract：:Nutrition plays a fundamental role in determining the growth of individuals. An appropriate growth progression is considered a harbinger of adequate nutrient intake and good health. On the other hand growth deceleration with or without short stature may indicate inadequate nutrition, even when there is no body weight ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Lifshitz F

更新日期：2009-01-01 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

authors： Poyrazoğlu Ş,Bundak R,Baş F,Yeğen G,Şanlı Y,Darendeliler F

更新日期：2017-09-01 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

authors： Şimşek DG,Yıldız B,Asar G,Darcan S

更新日期：2008-01-01 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

authors： Roth T,Nair S,Kumar A

更新日期：2010-01-01 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

authors： Dahl M,Ohrt JD,Fonvig CE,Kloppenborg JT,Pedersen O,Hansen T,Holm JC

更新日期：2017-03-01 00:00:00

abstract：:Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by a temporary isolated elevation of serum alkaline phosphatase activity (ALP), predominantly its bone or liver isoform, in either sick or healthy children under 5 years of age. Return to normal ALP levels usually occurs within four mo...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Kutilek S,Cervickova B,Bebova P,Kmonickova M,Nemec V

更新日期：2012-09-01 00:00:00

abstract：:The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region o...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Mengen E,Kayhan G,Kocaay P,Uçaktürk SA

更新日期：2020-09-02 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

authors： Abseyi N,Şıklar Z,Berberoğlu M,Hacıhamdioğlu B,Savaş Erdeve Ş,Öçal G

更新日期：2012-12-01 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

authors： Demir K,Döneray H,Kara C,Atay Z,Çetinkaya S,Çayır A,Anık A,Eren E,Uçaktürk A,Can Yılmaz G,Törel Ergür A,Kendirci M,Aycan Z,Bereket A,Aydın M,Orbak Z,Özkan B

更新日期：2019-05-28 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

authors： Eryılmaz SK,Baş F,Satan A,Darendeliler F,Bundak R,Günöz H,Saka N

更新日期：2009-01-01 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

authors： Cangül H,Demir K,Babayiğit HÖ,Abacı A,Böber E

更新日期：2015-09-01 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

authors： Malkoç I,Mazıcıoğlu MM,Özkan B,Kondolot M,Kurtoğlu S,Yeşilyurt H

更新日期：2012-03-01 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

authors： Övünç Hacıhamdioğlu D,Zeybek C,Gök F,Pekel A,Muşabak U

更新日期：2015-09-01 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

authors： Arman A,Dündar BN,Çetinkaya E,Erzaim N,Büyükgebiz A

更新日期：2014-12-01 00:00:00

abstract：Objective:5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods. To investigate the toxic effects of HMF on the reproductive system of peripubertal rats. Methods:In the study, 24 immature female Wistar rat were divided into three groups: c...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Elmaoğulları S,Kadan E,Anadol E,Gökçeoğlu A,Çetinkaya S,Yarım GF,Uçaktürk SA,Aycan Z

更新日期：2020-03-19 00:00:00

abstract：:Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old female patient was ref...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Tuhan H,Ceylaner S,Nalbantoğlu Ö,Acar S,Abacı A,Böber E,Demir K

更新日期：2017-12-15 00:00:00

abstract：OBJECTIVE:Pubertal gynecomastia (PG) occurs in up to 65% of adolescent boys. In this study, we investigated the relationship between the ages at which PG and peak height velocity occur in pubertal boys. METHODS:This was a prospective study that was designed to detect PG within three months of its emergence. We examine...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Limony Y,Friger M,Hochberg Z

更新日期：2013-09-10 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

authors： Eren E,Abuhandan M,Solmaz A,Taşkın A

更新日期：2014-09-01 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

authors： Gülaşı S,Atıcı A,Çelik Y

更新日期：2015-03-01 00:00:00

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

authors： Ghaemi N,Ghahraman M,Abbaszadegan MR,Baradaran-Heravi A,Vakili R

更新日期：2013-09-10 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

authors： Ghanny S,Zidell A,Pedro H,Joustra SD,Losekoot M,Wit JM,Aisenberg J

更新日期：2020-10-13 00:00:00

abstract：:Vitamin D intoxication usually occurs as a result of inappropriate use of vitamin D preparations and can lead to life-threatening hypercalcemia. It is also known that there are a number of physicians who prescribe vitamin D supplements for various clinical conditions, such as poor appetite and failure to thrive. While...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Anık A,Çatlı G,Abacı A,Dizdarer C,Böber E

更新日期：2013-01-01 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

authors： Chen Q,Chen Y,Wang X,Yang H,Zhang Y,Liu X,Yan Y,Wei H

更新日期：2020-06-02 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

authors： Wang HQ,Lai HL,Li Y,Liu QF,Hu S,Li L

更新日期：2016-09-01 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

authors： Metwalley KA,Farghaly HS,Raafat DM,Ismail AM,Saied GM

更新日期：2020-06-03 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

authors： Kırmızıbekmez H,Yeşiltepe Mutlu RG

更新日期：2014-12-01 00:00:00