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Journal of Clinical Research in Pediatric Endocrinology

Yuri Sonoda, Kenichiro Yamamura, Kanako Ishii, Kazuhiro Ohkubo, Kenji Ihara, Yasunari Sakai, Shouichi Ohga
Prostaglandin I2 (PGI2) causes hyperthyroidism, a critical complication in patients with pulmonary arterial hypertension (PAH). However, it remains unknown whether PGI2 may have unfavorable effects on thyroid functions in children with congenital portosystemic venous shunt syndrome (CPSVS). We present a boy with CPSVS who developed PAH at 7 years of age. During the PGI2 therapy, he experienced thyrotoxicosis at 17 years of age. The literature review showed that the past 12 patients with PAH (median 11 years of age) developed hyperthyroidism during 1 to 11 years of PGI2 treatments...
October 16, 2018: Journal of Clinical Research in Pediatric Endocrinology
Citlalli E Hernandez-Rodriguez, Cynthia M Estrada Zuñiga, Manuel E De la O-Cavazos, Fernando F Montes-Tapia, Blanca P Gerez-Martinez, Fernando J Lavalle-Gonzalez, Consuelo Treviño Garza
BACKGROUND: Hormones produced by fat tissue known as adipokines, are produced during intrauterine life and have recently been implicated in fetal growth. Vaspin is a adipokine expressed in visceral adipose tissue and has insulin-sensitizing effects. Elevated vaspin concentrations in serum are associated with alterations in insulin sensitivity. OBJECTIVE: To determine if vaspin concentrations in cord blood of healthy term newborns differ between small (SGA), appropriate (AGA), and large (LGA) for gestational age...
October 16, 2018: Journal of Clinical Research in Pediatric Endocrinology
Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, Bülent Hacıhamdioğlu
OBJECTIVE: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 25OHD 1α-hydroxylase gene ( CYB27B1 ). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis. METHODS: We analysed genomic DNA from 11 patients from 8 different Turkish families. The patients were recruited for our studies if they presented with diagnosis of vitamin D dependent rickets...
October 4, 2018: Journal of Clinical Research in Pediatric Endocrinology
Kotb Abbass Metwalley, Hekma Saad Farghaly, Abdelrahman Abdelhamid
OBJECTIVE: Epicardial fat thickness (EFT) is an emerging cardiometabolic risk factor and has been shown to be related to atherosclerosis. EFT has not been studied in the context of CAH. This study aimed to evaluate EFT in children with CAH and its relation to carotid intima media thickness (CA-IMT) and left ventricular functions. METHODS: 36 children with classic CAH were compared with 36 healthy controls. All children had confirmed CAH and received steroid substitution therapy...
October 4, 2018: Journal of Clinical Research in Pediatric Endocrinology
Maria Eleni Nikita, Helen M Hendy, Keith E Williams, Paul L Mueller
OBJECTIVE: While past research found family conflict, disordered eating, body image concerns, and anxious self-doubts may affect glucose control (A1C), available measures of adherence mainly focus on management tasks. The goal of the current study was to combine emotional distress and beliefs with decisions on management in a new measure of adolescent resistance to treatment adherence: the 12-item Glucose Control Resistance Scale (GCRS). METHODS: Participants included 135 adolescents and their parents from a pediatric diabetes clinic...
October 4, 2018: Journal of Clinical Research in Pediatric Endocrinology
Fatih Gürbüz, Mehmet Taştan, İhsan Turan, Bilgin Yüksel
Inappropriate ADH syndrome (SIADH) may develop after intracranial surgery. SIADH in pediatric age is mostly seen in intracranial mass and not only after surgery. The management of these clinical conditions in patients is important for the clinical course of the patient. Fluid restriction is standard therapy in SIADH. Resistant hyponatremic pattern may be encountered in some cases. Vaptans have recently started to be used in hyponatremia due to SIADH. A patient with SIADH of triphasic episode presented to our clinical practice after surgery of craniopharyngioma...
September 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
Gamze Çelmeli, Yusuf Çürek, Zümrüt Arslan Gülten, Mehmet Yardımsever, Mustafa Koyun, Sema Akçurin, İffet Bircan
OBJECTIVE: Because childhood obesity is still a growing problem in the world, we conducted this study aiming to show the trend in obesity (OB) and overweight (OW) prevalence in the last decade, to observe the alteration of OB and OW prevalence according to age groups and to construct the new age and gender specific body mass index (BMI) reference percentile charts for Turkish children living in the city center of Antalya. METHODS: This cross-sectional study includes 1687 school aged children...
September 25, 2018: Journal of Clinical Research in Pediatric Endocrinology
Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino, Pablo Ramirez, Mariana Costanzo, Gabriela Guercio, Esperanza Berensztein, Marco A Rivarola, Alicia Belgorosky
OBJECTIVE: The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY DSD in our population. METHODS: We studied 41 non related 46,XY DSD index cases with characteristics consistent with AIS. Genomic DNA was isolated from peripheral blood leukocytes of all patients and 25 family members from 17 non-related families. RESULTS: The AR gene analysis revealed an abnormal sequence in58.5% of total index patients...
September 25, 2018: Journal of Clinical Research in Pediatric Endocrinology
Ramasamy Thirunavukkarasu, Arthur Joseph Asirvatham, Ayyappan Chitra, Mariakuttikan Jayalakshmi
OBJECTIVE: Zinc transporter 8 (ZnT8) is a multi-trans membrane protein situated in the insulin secretory granule of the islets of β-cells and is identified as a novel auto-antigen in Type 1 diabetes (T1D). The gene coding for ZnT8 (solute carrier family 30 member 8; SLC30A8) is located in Chromosome 8q24.11. In this work it is aimed to identify the association of SLC30A8 rs13266634 C/T gene polymorphism with T1D in chosen children of Tamil Nadu, India. METHODS: The family based study is made on 121 T1D patients and 214 of their family members as control...
September 10, 2018: Journal of Clinical Research in Pediatric Endocrinology
Helmuth G Dörr, Theresa Penger, Andrea Albrecht, Michaela Marx, Thomas M K Völkl
OBJECTIVE: Classic congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency (CAH) is characterized by increased prenatal adrenal androgen secretion. There are few reports in the literature showing higher birth weight and length in CAH newborns. METHODS: We analyzed birth weight and length data of 116 German newborns (48 boys, 68 girls) with classic CAH who were born during the period from 1990 to 2017. All children have been followed or are currently treated as outpatients in our clinic...
September 4, 2018: Journal of Clinical Research in Pediatric Endocrinology
Sze May Ng, Donatella Pintus, Mark A Turner
BACKGROUND: Recent studies have shown that small for gestational age (SGA) term infants undergo catchup growth during infancy but there is limited studies on early growth outcomes of extreme premature SGA infants. OBJECTIVES: The aim of this study was to compare factors associated during birth in extremely premature infants less than 28 weeks' gestation who were born SGA (<10th percentile for gestational age) with those who were born appropriate-for-gestational age (AGA) (10th -89th percentile) and to determine whether there was catch up growth at term equivalence...
August 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
Dilsah Önerli Salman, Zeynep Şıklar, Eda Nisa Cullas İlarslan, Z. Birsin Özçakar, Pınar Kocaay, Merih Berberoğlu
Background: There is growing interest in the relationship between obesity and renal damage. The effect of obesity on renal function in children and adolescents has not been adequately investigated. In addition, there is no complete consensus on the reliability of renal function parameters and which of these accurately estimate true renal function. The primary goal of this study was to evaluate renal function in obese children and adolescents using glomerular filtration rate (GFR), cystatin C, and creatinine (Cr)-derived formulas...
August 17, 2018: Journal of Clinical Research in Pediatric Endocrinology
Tülay Güran, Başak Tezel, Fatih Gürbüz, Beray Selver Eklioğlu, Nihal Hatipoğlu, Cengiz Kara, Enver Şimşek, Filiz Mine Çizmecioğlu, Alev Ozon, Firdevs Baş, Murat Aydın, Feyza Darendeliler
BACKGROUND: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt-wasting form and reducing mortality. AIM: To estimate incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy. METHOD: A pilot newborn CAH screening study was carried out under the authority of Turkish Directorate of Public Health...
August 14, 2018: Journal of Clinical Research in Pediatric Endocrinology
Fatma Dursun, Serdar Ceylaner
Aromatase deficiency is a rare autosomal recessive disorder in which affected patients cannot have a normal estrogen synthesis. Herein, we report a 46, XX patient born with virilised external genitalia. A novel homozygous mutation in the CYP19A1 gene, causing aromatase deficiency, was detected. A 30-day infant was referred to pediatric endocrinology because of a uterus, detected in an ultrasonography examination. He was born at 23th gestational week with C-section because of preeclampsia and premature membrane rupture...
August 3, 2018: Journal of Clinical Research in Pediatric Endocrinology
Ahmet Uçar, Ayhan Abacı, Özgür Pirgon, Bumin Dündar, Filiz Tütüncüler, Gönül Çatlı, Ahmet Anık, Aylin Kılınç Uğurlu, Atilla Büyükgebiz
Objective: A comprehensive survey was conducted to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. Methods: A structured questionnaire prepared by the Turner study group in Turkey, which covered relevant aspects of patient care in TS was sent to 44 pediatric endocrinology centers. Results: Eighteen centers (41%) responded to the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
Nursel Muratoğlu Şahin, Asiye Uğraş Dikmen, Semra Çetinkaya, Zehra Aycan
Objective: Data concerning subnormal growth velocity (GV) and factors that influence this during gonadotropin-releasing hormone analog (GnRHa) therapy for idiopathic central precocious puberty (ICPP) are scarce. We investigated the incidence of subnormal GV and associated factors in patients receiving GnRHa therapy for ICPP. Methods: In this retrospective cohort study, the records of 50 girls who had been diagnosed with ICPP and started on GnRHa treatment before the age of eight years were investigated...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
Sibel Tiryaki, Ali Tekin, İsmail Yagmur, Samim Özen, Burcu Özbaran, Damla Gökşen, Şükran Darcan, İbrahim Ulman, Ali Avanoğlu
Objective: Disorders of sex development (DSD) is a nomenclature intended to defeat the discomfort of families and patients and has found worldwide usage. The aim of this study was to address the perception and usage of terminology among the parents of DSD patients in a tertiary center in western Turkey. Methods: The records of the DSD council (multidisciplinary team where each patient with DSD is discussed) between years 2008-2015 were reviewed retrospectively. Data including details of the management process, patient characteristics and follow-up details were noted...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
Aslı Derya Kardelen, Güven Toksoy, Firdevs Baş, Zehra Yavaş Abalı, Genco Gençay, Şükran Poyrazoğlu, Rüveyde Bundak, Umut Altunoğlu, Şahin Avcı, Adam Najaflı, Oya Uyguner, Birsen Karaman, Seher Başaran, Feyza Darendeliler
Objective: 17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed puberty. The disease is associated with bi-allelic mutations in the CYP17A1 gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment outcomes of 17OHD patients. Methods: We evaluated six patients with 17OHD from five families at presentation and at follow up...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
Ali Duyu, Elvan Cağlar Çıtak, Erdem Ak, Serhan Küpeli, Begül Yağcı Küpeli, İbrahim Bayram, Gülay Sezgin, Gülçin Eskendari, Kerem Sezer
OBJECTIVE: In this study, we evaluated the frequency of euthyroid sick syndrome (ESS) among patients with childhood cancer and its association with the stage of disease, nutritional parameters and cytokines levels. METHODS: Eighty newly diagnosed children were included in the study. ESS was assessed in two different ways. According to criteria 1 ESS was present if free triiodothyronine (fT3) was below the lower limit and free thyroxine was within the normal or low limits, thyroid-stimulating hormone (TSH) was in the normal range...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
Emine Çamtosun, Zeynep Şıklar, Merih Berberoğlu
Objective: Continuation of growth hormone (GH) treatment in adolescents with severe childhood onset idiopathic GH deficiency (IGHD) during the transition period, irrespective of achievement of final height, is still debatable. We aimed to prospectively investigate the metabolic profile, bone mineral density (BMD) and body composition of patients with IGHD in whom GH treatments were terminated after they had reached their final height, six months after the cessation of therapy. Methods: Twelve patients, six of whom had peak GH levels <5 ng/mL [permanent GH deficiency (GHD), group 1], and six who had peak GH levels >5 ng/mL (transient GHD, group 2) after insulin stimulation test were evaluated for anthropometric and laboratory parameters including fasting blood glucose (FBG), fasting insulin, lipid profile, BMD, body composition measurements and 24-hour ambulatory blood pressure monitoring before (baseline) and at six months after discontinuation of GH...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
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