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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/30111524/neonatal-screening-for-congenital-adrenal-hyperplasia-in-turkey-a-pilot-study-with-38-935-infants
#1
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
https://www.readbyqxmd.com/read/30074481/a-novel-homozygous-cyp19a1-gene-mutation-aromatase-deficiency-mimicking-congenital-adrenal-hyperplasia-in-an-infant-without-obvious-maternal-virilisation
#2
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
https://www.readbyqxmd.com/read/30015622/efficacy-and-safety-of-continuous-subcutaneous-insulin-infusion-vs-multiple-daily-injections-on-type-1-diabetes-children-aged-%C3%A2-18-years-old-a-meta-analysis-with-randomized-control-trials
#3
Yuan Qin, Lu Hong Yang, Xiao Li Huang, Xiao Hong Chen, Hui Yao
OBJECTIVE: This meta-analysis was performed to evaluate efficacy and safety of Continuous subcutaneous insulin infusion (CSII) vs. Multiple daily injections (MDI) in children with type 1 diabetes. METHODS: A literature search was conducted on databases including PubMed and Embase up to June 2017. The pooled weighted mean difference (WMD) or risk ratio (RR) as well as 95% confidence intervals (CIs) were calculated by Revman 5.3. RESULTS: 8 studies involving 310 children with type 1 diabetes were included...
July 17, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30015621/hyperphosphatemic-familial-tumoral-calcinosis-in-two-siblings-with-a-novel-mutation-in-galnt3-gene-experience-from-southern-turkey
#4
Rabia Miray Kışla Ekinci, Fatih Gürbüz, Sibel Balcı, Atıl Bisgin, Mehmet Taştan, Bilgin Yüksel, Mustafa Yılmaz
Inactivating autosomal recessive mutations in both FGF23, KL and GALNT3 genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC constantly present hyperphosphatemia and tumor like soft tissue calcifications. Although 78% of patients develop their first symptoms between 2-13 years of age, diagnosis is usually delayed until adulthood. Some individuals with the same genetic defect overlap a condition named Hyperphosphatemic hyperostosis syndrome (HHS). Herein we report two siblings suffering from periarticular warm, hard and tender subcutaneous masses...
July 17, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/30015620/effect-of-telehealth-system-on-glycemic-control-in-children-and-adolescents-with-type-1-diabetes
#5
Esra Döğer, Rukiye Bozbulut, A Şebnem Soysal Acar, Şebnem Ercan, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Aysun Bideci, Orhun Çamurdan, Peyami Cinaz
OBJECTIVE: A close diabetes team-patient relationship is required for establishing a well metabolic control. The purpose of this study is to research the effect of telehealth system developed by the diabetes team on the diabetes control. METHODS: The study was carried out between June 2015 and January 2016 at the Gazi University Pediatric Endocrinology Department. The Telehealth system was developed by the diabetes team and the demographic characteristics, frequency of use and HbA1c changes of diabetic patients (type 1) using this communication network were noted...
July 17, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29991466/pathogenesis-of-thalassemia-major-associated-osteoporosis-review-of-the-literature-and-our-experience
#6
Agostino Gaudio, Nancy Morabito, Antonino Catalano, Rosario Rapisarda, Anastasia Xourafa, Antonino Lasco
Due to increasing life expectancy in thalassemia major (TM), osteoporosis is emerging as a significant problem. Its aetiology is multifactorial, culminating in increased bone resorption and remodelling. Hypogonadism and marrow expansion seem to play an important role, but iron overload, deferoxamine toxicity, a defective GH-IGF-1 axis and multiple endocrinopathies may represent additional causes of bone damage. Many of these patients, though under appropriate treatment programs, do not achieve normal peak bone mass...
July 11, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29991465/severe-neonatal-cholestasis-as-an-early-presentation-of-mccune-albright-syndrome
#7
Nicole Coles, Ian Comeau, Tatiana Munoz, Jennifer Harrington, Roberto Mendoza-Londono, Andreas Schulze, Sari Kives, Binita M Kamath, Jill Hamilton
McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication. We review the case of a child with MAS whose initial presentation was characterized by severe neonatal cholestasis. The case demonstrates a severe phenotype of persistent cholestasis in MAS requiring liver transplantation, which has been previously considered to be a more benign feature. This case highlights the importance of consideration of MAS as an uncommon but important etiology of neonatal cholestasis...
July 11, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29991464/a-novel-mutation-in-the-arginine-vasopressin-receptor-2-gene-causing-congenital-nephrogenic-diabetes-insipidus
#8
Aslı Celebi Tayfur, Tugce Karaduman, Merve Ozcan Turkmen, Dilara Sahin, Aysun Caltik Yılmaz, Bahar Buyukkaragoz, Ayse Derya Bulus, Hatice Mergen
OBJECTIVE: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to the arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by the mutations in the AVPR2 gene. Our objective is to report a novel mutation in AVPR2 gene causing CNDI in a 6-year-old boy presenting with growth failure and dull normal cognitive functions. METHODS: The proband was the third off-spring of non-consanguineous parents and had polyuria (4...
July 11, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29809159/the-role-of-irisin-insulin-and-leptin-in-maternal-and-fetal-interaction
#9
Deniz Ökdemir, Nihal Hatipoğlu, Selim Kurtoğlu, Ülkü Gül Siraz, Himmet Haluk Akar, Sabahattin Muhtaroğlu, Mehmet Serdar Kütük
OBJECTIVE: İnsulin is an important hormone for intrauterine growth, irisin is also an effective myokine in the regulation of physiological insulin resistance in pregnancy. Leptin and insulin are associated with fetal growth and adiposity. In this study, we aimed to investigate the relationship between irisin, insulin and leptin levels and maternal weight gain, newborn anthropometric measurements. METHODS: Eighty-four mothers and newborns were included in the study...
May 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29809158/slc34a3-intronic-deletion-in-an-iranian-kindred-with-hereditary-hypophosphatemic-rickets-with-hypercalciuria-and-review-of-reported-cases
#10
Shirin Hasani-Ranjbar, Hanieh Sadat Ejtahed, Mahsa M Amoli, Fatemeh Bitarafan, Mostafa Qorbani, Akbar Soltani, Bahareh Yarjoo
OBJECTIVE: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a very rare inheritable hypophosphatemic rickets/osteomalacia characterized by decreased renal phosphate reabsorption, hypophosphatemia, vitamin D refractory rickets, hyperphosphaturia, hypercalciuria, elevated circulating 1, 25-dihydroxy vitamin D levels and low serum parathyroid hormone (PTH) levels, leading to growth retardation, limb deformities, bone pain, muscle weakness, rickets and osteomalacia. Biallelic mutations in SLC34A3/NPT2c gene are responsible for the occurrence of the disease...
May 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29789275/perceived-expressed-emotion-emotional-and-behavioral-problems-and-self-esteem-in-obese-adolescents-a-case-control-study
#11
Merve Çolpan, Şafak Eray, Erdal Eren, Ayşe Pınar Vural
OBJECTIVE: Obesity is a chronic disease which causes medical and psychiatric complications. Family climate is also a critical factor in the presence and treatment of obesity and comorbid psychiatric disorders. In our study, perceived expressed emotion (EE), psychopathology, self-esteem and emotional and behavioural problems among obese adolescents will be investigated by comparison with their non-obese peers. METHODS: This study was carried out with 49 obese adolescents and 47 non-obese adolescents as a control group...
May 23, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29789274/incidence-of-type-1-diabetes-in-children-aged-below-18-years-during-2013-2015-in-northwest-turkey
#12
Şükran Poyrazoğlu, Rüveyde Bundak, Zehra Yavaş Abalı, Hasan Önal, Sevil Sarıkaya, Abdurrahman Akgün, Serpil Baş, Saygın Abalı, Abdullah Bereket, Erdal Eren, Ömer Tarım, Ayla Güven, Metin Yıldız, Derya Karaman Aksakal, Ayşegül Yüksel, Gülcan Seymen Karabulut, Şükrü Hatun, Tolga Özgen, Yaşar Cesur, Mehmet Azizoğlu, Emine Dilek, Filiz Tütüncüler, Esra Papatya Çakır, Bahar Özcabı, Olcay Evliyaoğlu, Songül Karadeniz, Fatma Dursun, Semih Bolu, İlknur Arslanoğlu, Gül Yeşiltepe Mutlu, Heves Kırmızıbekmez, Pınar İşgüven, Ala Üstyol, Erdal Adal, Ahmet Uçar, Nurcan Cebeci, Didem Bezen, Çiğdem Binay, Serap Semiz, Hüseyin Anıl Korkmaz, Nihal Memioğlu, Elif Sagsak, Havva Nur Peltek, Melek Yıldız, Teoman Akçay, Serap Turan, Tülay Güran, Zeynep Atay, Neşe Akcan, Filiz Çizmecioğlu, Oya Ercan, Aydilek Dağdeviren, Firdevs Baş, Halim İşsever, Feyza Darendeliler
OBJECTIVE: To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. METHODS: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total as well as gender and age group specific (0-4, 5-9, 10-14 and 15-17 age) mean incidences per 100.000 per year were calculated. RESULTS: There were 1773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015)...
May 23, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29789273/insulin-resistance-is-related-to-psychiatric-disorders-among-obese-children
#13
Deniz Özalp Kızılay, Şermin Yalın Sapmaz, Semra Şen, Yekta Özkan, Betül Ersoy
OBJECTIVE: The current study aimed to investigate psychiatric consequences of obesity (OBy) and the relationship between metabolic syndrome components and psychiatric disorders in children. Our secondaryaim was to elucidate which of the anthropometric parameters or metabolic components were most strongly associated with psychiatric disorders. METHODS: The study included 88 obese(OB)and overweight (OW) children with a body mass index (BMI) greater than 85th percentile...
May 23, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29699389/a-synopsis-of-current-practice-in-the-diagnosis-and-management-of-patients-with-turner-syndrome-in-turkey-a-survey-of-18-pediatric-endocrinology-centers
#14
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
https://www.readbyqxmd.com/read/29687783/subnormal-growth-velocity-and-related-factors-during-gnrh-analog-therapy-for-idiopathic-central-precocious-puberty
#15
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
https://www.readbyqxmd.com/read/29595517/parental-perception-of-terminology-of-disorders-of-sex-development-in-western-turkey
#16
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
https://www.readbyqxmd.com/read/29595516/a-rare-cause-of-congenital-adrenal-hyperplasia-clinical-and-genetic-findings-and-follow-up-characteristics-of-six-patients-with-17-hydroxylase-deficiency-including-two-novel-mutations
#17
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
https://www.readbyqxmd.com/read/29553046/prevalence-and-related-factors-of-euthyroid-sick-syndrome-in-children-with-untreated-cancer-according-to-two-different-criteria
#18
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
https://www.readbyqxmd.com/read/29553045/prospective-follow-up-of-children-with-idiopathic-growth-hormone-deficiency-after-termination-of-growth-hormone-treatment-is-there-really-need-for-treatment-at-transition-to-adulthood
#19
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
https://www.readbyqxmd.com/read/29553044/neonatal-features-of-the-prader-willi-syndrome-the-case-for-making-the-diagnosis-during-the-first-week-of-life
#20
Filiz Mine Çizmecioğlu, Jeremy Huw Jones, Wendy Forsyth Paterson, Sakina Kherra, Mariam Kourime, Ruth McGowan, M. Guftar Shaikh, Malcolm Donaldson
Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Methods: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. Results: Ninety patients (54 male-36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500 g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%)...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
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