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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/28387648/dysmorphic-features-frontal-cerebral-cavernoma-and-hyperglycemia-in-a-girl-with-a-de-novo-deletion-of-7-23-mb-in-region-7p13-p12-1
#1
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
We describe the case of a 7 year old girl referred to our Diabetes Unit for hyperglycemia associated to facial dysmorphic features, intellectual disability and cerebral cavernomas, who was initially diagnosed with type 1 diabetes mellitus (positive anti-IA2 antibody and HLA DR3/DR4/DQ2). In follow up, due to the evolution of the diabetes (very good metabolic control with low insulin dose and negative IA-2 antibodies - samples analyzed in two different laboratories-), first clinical suspicion was GCK-related Maturity-Onset Diabetes of the Young (MODY 2) by persistent mild hyperglycemia in the fasting state, which was substantiated in Multiplex Ligation-dependent Probe Amplification (MLPA)...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28387647/management-of-childhood-thyroid-nodules-surgical-and-endocrinological-experience-in-more-than-one-hundred-cases
#2
Emre Divarcı, Ülgen Celtik, Zafer Dökümcü, Orkan Ergün, Geylani Özok, Samim Özen, Damla Gökşen Şimşek, Şükran Darcan, Nazan Çetingül, Aylin Oral, Yeşim Ertan, Bengü Demirağ, Ahmet Çelik
OBJECTIVE: The management of childhood thyroid nodules is still a big challenge for clinicians. In this study, we aimed to present our surgical and endocrinological experience in more than one hundred cases as a large experience in children. METHODS: Retrospective analysis of patients admitted with a thyroid nodule between 2006-2014 was performed. Detailed ultrasonography and fine needle aspiration biopsy(FNAB) were the corner stones of the diagnostic approach. RESULTS: One hundred-three children(72F,31M) with a mean age of 13...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28270372/congenital-hyperinsulinism-in-china-a-review-of-chinese-literature-over-the-past-15-years
#3
Wang Weiyan, Sun Yi, Zhao Wenting, Wu Tai, Wang Liang, Yuan Tianming, Yu Huimin
OBJECTIVE: The present study is investigated the clinical presentation, therapeutic outcomes and genetic mutations of CHI in Chinese individuals over the past 15 years. METHODS: The authors retrospectively reviewed one case in the department and 206 cases reported from January 2002 to October 2016 in China from PubMed, Ovid Medline, Springer and Wanfang Database, CBMD database and CKNI database. RESULTS: In total, 207 cases were recruited: 100 cases (48...
March 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28270369/reliability-and-validity-of-the-diabetes-eating-problem-survey-revised-on-turkish-children-and-adolescents-with-type-1-diabetes-mellitus
#4
Yasemin Atik Altınok, Suriye Özgür, Reci Meseri, Samim Özen, Şükran Darcan, Damla Gökşen
OBJECTIVE: The aim of this study was to examine the reliability and validity of Turkish version of Diabetes Eating Problem Survey-Revised (DEPS-R) for children and adolescent with Type 1 Diabetes Mellitus. METHODS: A total of 200 children and adolescents with type 1 diabetes, ages 9-18 years, completed the DEPS-R Turkish version. In addition to tests of validity, confirmatory factor analysis was conducted to investigate the factor structure of the 16-item Turkish version of DEPS-R...
February 23, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28218068/the-relationship-between-perceived-family-climate-and-glycemic-control-in-adolescents-with-type-1-diabetes-mellitus
#5
Şafak Eray, Halit Necmi Uçar, Fatma Çetinkaya, Erdal Eren, Pınar Vural
OBJECTIVE: Type 1 diabetes mellitus (T1DM) is a chronic disease, which ranks third in the children under 16 years old. Expressed emotion (EE) is a term that indicates a specific family climate including lack of emotional support (LES), irritability and emotional over-involvement. It is known that the family environment is highly important on glycemic control in diabetic adolescents. In this study the relationship between perceived EE and glycemic control in adolescents diagnosed with T1DM not accompanied by psychopathology will be investigated...
February 20, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28218067/melanocortin-4-receptor-gene-mutations-in-a-group-of-turkish-obese-children-and-adolescents
#6
Selma Tunç, Korcan Demir, Fatma Ajlan Tükün, Cihan Topal, Filiz Hazan, Burcu Sağlam, Özlem Nalbantoğlu, Melek Yıldız, Behzat Özkan
OBJECTIVE: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is limited data regarding MC4R mutations in Turkish subjects. To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents. METHODS: MC4R was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1-18 years) who presented during a 1-year period. Inclusion criterion was a BMI ≥120% of the 95th percentile or ≥35 kg/m2...
February 20, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28196789/the-relationship-of-disordered-eating-attitudes-with-stress-level-bone-turnover-markers-and-bone-mineral-density-in-obese-adolescents
#7
Aslı Okbay Güneş, Müjgan Alikaşifoğlu, Ezgi Şen Demirdöğen, Ethem Erginöz, Türkay Demir, Mine Kucur, Oya Ercan
OBJECTIVE: To investigate the effect of stress caused by disordered eating attitudes on bone health in obese adolescents. METHODS: A cross-sectional study comprising 80 obese adolescents was performed from November 2013 to September 2014. Twenty-four-hour urinary free cortisol levels were measured as a biological marker of stress. Bone turnover was evaluated using bone-specific alkaline phosphatase, serum osteocalcin, and urinary N-telopeptide measurements. Bone mineral density was measured using dual-energy X-ray absorptiometry...
February 15, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28163257/the-relation-of-glycaemic-variability-with-inflammatory-markers-in-obese-children-with-insulin-resistance-and-metabolic-syndrome
#8
Abdurrahman Kaya, Cemil Koçyiğit, Gönül Çatlı, Elif Büşra Özkan, Bumin Nuri Dündar
OBJECTIVE: To investigate the relationship between glycaemic variability and inflammatory parameters in obese children with insulin resistance and to elucidate their effects on the development of metabolic syndrome. METHODS: Fifty obese adolescents with insulin resistance were included in the study. All patients underwent anthropometric measurements, body fat analysis and continuous glucose monitoring system (CGMS) for 24 hours. Serum lipids, adiponectin and interleukin-6 (IL-6) levels were measured...
February 6, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28150584/treatment-of-pre-pubertal-patients-with-growth-hormone-deficiency-patterns-in-growth-hormone-dosage-and-igf-i-z-scores
#9
Megan Oberle, Adda Grimberg, Vaneeta Bamba
OBJECTIVE: To describe the range of IGF-Iz and GH dose adjustments in pre-pubertal patients with GH deficiency (GHD) treated with GH in a single tertiary care center. METHODS: Retrospective review of GH-treated patients age <9 years with GHD, seen in endocrinology clinic 2013-2014. Patient demographics and pre-treatment anthropometrics, GH treatment duration, IGF-Iz, and GH dosage (mg/kg/week) were extracted. Multi-predictor linear regression was used to evaluate the associations between IGF-Iz and GH dosage and subject gender, race, insurance type, age, and clinical characteristics...
February 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28044991/age-specific-frequencies-and-characteristics-of-ovarian-cysts-in-children-and-adolescents
#10
Hamdi Cihan Emeksiz, Okşan Derinöz, Esra Betül Akkoyun, Faruk Güçlü Pınarlı, Aysun Bideci
OBJECTIVE: The aim of the present study was to document ovarian cyst frequency and characteristics as well as distribution of these parameters with respect to age in children and adolescents. METHODS: We retrospectively analyzed the medical records of 1009 girls between the ages of 5-18 years who presented to our pediatric emergency department (PED) with pelvic pain and therefore underwent pelvic ultrasound examination between June 2011 and May 2014. RESULTS: In total, 132 of 1009 girls (13...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28008865/the-relationship-between-serum-zonulin-level-and-clinical-and-laboratory-parameters-of-childhood-obesity
#11
Tuncay Küme, Sezer Acar, Hale Tuhan, Gönül Çatlı, Ahmet Anık, Özlem Gürsoy Çalan, Ece Böber, Ayhan Abacı
OBJECTIVE: To investigate the relationship between zonulin levels and clinical and laboratory parameters of childhood obesity. METHODS: The study included obese children with a body mass index (BMI) >95(th) percentile and healthy children who were of similar age and gender distribution. Clinical (BMI, waist circumferences, mid-arm circumference, triceps skinfold, percentage of body fat, systolic blood pressure, diastolic blood pressure) and biochemical (glucose, insulin, lipid levels, thyroid function tests, cortisol, zonulin and leptin levels) parameters were measured...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27908842/role-of-versican-and-adamts-1-in-polycystic-ovary-syndrome
#12
Sibel Özler, Efser Öztaş, Aytekin Tokmak, Merve Ergin, Meryem Kuru Pekcan, Başak Gümüş Güler, Halil İbrahim Yakut, Nafiye Yılmaz
OBJECTIVE: ADAMTS-1 is a matrix metalloproteinase which cleaves versican in the cumulus oocyte complex under the effect of luteinizing hormone surge in the periovulatory period. Altered levels may have a role in the pathogenesis of polycystic ovary syndrome (PCOS). We aimed to determine the serum versican and ADAMTS-1 (a disintegrin and metalloproteinase with thrombospondin motif-1) levels in PCOS patients and compare the results with healthy controls. METHODS: Thirty-eight patients with PCOS and forty healthy controls aged between 15 and 22 years were included in the study...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27796265/a-rare-cause-of-short-stature-3m-syndrome-in-a-patient-with-novel-mutation-in-obsl1-gene
#13
Melikşah Keskin, Nursel Muratoğlu Şahin, Erdal Kurnaz, Elvan Bayramoğlu, Şenay Savaş Erdeve, Zehra Aycan, Semra Çetinkaya
The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39(th) week of gestation, with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. On physical examination, her length was 67 cm [-3.6 standard deviation (SD) score], weight 7...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27796263/uniparental-isodisomy-of-chromosome-1-unmasking-an-autosomal-recessive-3-beta-hydroxysteroid-dehydrogenase-type-ii-related-congenital-adrenal-hyperplasia
#14
Karin Panzer, Osayame A Ekhaguere, Benjamin Darbro, Jennifer Cook, Oleg A Shchelochkov
Steroid 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3β-HSD2 deficiency arising from uniparental isodisomy (UPD) of chromosome 1. We describe a term undervirilized male whose newborn screen indicated borderline CAH. The patient presented on the 7(th) day of life in salt-wasting adrenal crisis. Steroid hormone testing revealed a complex pattern suggestive of 3β-HSD deficiency. Chromosomal microarray and single nucleotide polymorphism analysis revealed complete UPD of chromosome 1...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27660068/neck-circumference-to-assess-obesity-in-preschool-children
#15
Meda Kondolot, Duygu Horoz, Serpil Poyrazoğlu, Arda Borlu, Ahmet Öztürk, Selim Kurtoğlu, Mümtaz M Mazıcıoğlu
OBJECTIVE: Limited information is available about the use of neck circumference (NC) to assess obesity in preschool children. This study aims to provide NC percentiles and determine the cut-off levels of NC as a measure to assess obesity in preschool children. METHODS: The data were obtained from the Anthropometry of Turkish Children aged 0-6 years (ATCA-06) study database. A total of 21 family health centers were chosen and children aged 2-6 years old from all socioeconomic levels were randomly selected from the lists of district midwives; 1766 children (874 male and 892 female; 88...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27612192/association-between-endocrine-diseases-and-serous-otitis-media-in-children
#16
Murat Koçyiğit, Taliye Çakabay, Safiye G Örtekin, Teoman Akçay, Güven Özkaya, Selin Üstün Bezgin, Melek Yıldız, Mustafa Kemal Adalı
OBJECTIVE: Otitis media with effusion (OME) is a condition in which fluid is retained in the middle ear cavity. The association between endocrine disorders and OME has not yet been determined. This study aimed to investigate the presence of OME in children diagnosed with an endocrine disease and the relationship between these two conditions. METHODS: The study was conducted on 918 pediatric patients (440 boys, 478 girls; mean age: 8.40, range 3-15 years) and 158 healthy controls (76 boys, 79 girls; mean age: 8...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27612026/clinical-and-mutational-features-of-three-chinese-children-with-congenital-generalized-lipodystrophy
#17
Xueying Su, Ruizhu Lin, Yonglan Huang, Huiying Sheng, Xiaofei Li, Tzer Hwu Ting, Li Liu, Xiuzhen Li
OBJECTIVE: To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations. METHODS: Data on clinical symptoms, results of laboratory analyses, and previous treatments in three Chinese patients were collected by a retrospective review of medical records. All coding regions and adjacent exon-intron junction regions of AGPAT2 and BSCL2 genes were amplified by polymerase chain reaction and sequenced...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27611730/subclinical-hypothyroidism-in-danish-lean-and-obese-children-and-adolescents
#18
Maria Dahl, Johanne Dam Ohrt, Cilius Esmann Fonvig, Julie Tonsgaard Kloppenborg, Oluf Pedersen, Torben Hansen, Jens Christian Holm
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 cross-sectional study, we included 3006 children and adolescents, aged 6-18 years, from the Registry of the Danish Childhood Obesity Biobank. The overweight/obese group (n=1796) consisted of study participants with a body mass index (BMI) standard deviation score (SDS) ≥1...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27550890/safety-and-efficacy-of-stosstherapy-in-nutritional-rickets
#19
Daipayan Chatterjee, Mathad K S Swamy, Vikas Gupta, Vasu Sharma, Akshat Sharma, Krishti Chatterjee
OBJECTIVE: Stosstherapy has been used since early 19(th) century for treating nutritional rickets. However, there are no clear cut guidelines for the biochemical monitoring of this treatment. Repeated blood tests at short intervals increase the cost of therapy and noncompliance. METHODS: A prospective study was conducted on 191 cases of nutritional rickets below 10 years of age to evaluate the effectivity of stosstherapy. All cases were treated with a single intramuscular injection of vitamin D (600...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27507256/comparison-of-updated-weight-and-height-percentiles-with-previous-references-in-6-17-year-old-children-in-kayseri-turkey
#20
Gökmen Zararsız, Betül Çiçek, Meda Kondolot, M Mümtaz Mazıcıoğlu, Ahmet Öztürk, Selim Kurtoğlu
OBJECTIVE: To compare updated weight and height percentiles of 6-17-year-old children from all socio-economic levels in Kayseri with previous local references and other national/international data. METHODS: The second study "Determination of Anthropometric Measurements of Turkish Children and Adolescents study (DAMTCA II)" was conducted in Kayseri, between October 2007 and April 2008. Weight and height measurements from 4321 (1926 boys, 2395 girls) school children aged between 6 to 17 years were included in this cross-sectional study...
March 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
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