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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/28529200/occurrence-of-hyperprolactinemia-in-children-with-subclinical-hypothyroidism
#1
Neera Sharma, Deep Dutta, Lokesh Sharma
BACKGROUND: Prevalence of hyperprolactinemia in children with subclinical hypothyroidism (ScH) is not known. This study aimed to determine the occurrence and predictors of hyperprolactinemia in children with euthyroidism, ScH and overt primary hypothyroidism (OPH). METHODS: Consecutive children <18 years age, diagnosed to have normal thyroid function, ScH or OPH underwent serum prolactin estimation. Children with pituitary adenomas, secondary hypothyroidism, multiple pituitary hormone deficiency, comorbid states and drug-induced hyperprolactinemia were excluded...
May 22, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28529199/can-fetuin-a-be-a-marker-for-insulin-resistance-and-poor-glycemic-control-in-children-with-type-1-diabetes-mellitus
#2
Ülkü Gül Sıraz, Murat Doğan, Nihal Hatipoğlu, Sabahttin Muhtaroğlu, Selim Kurtoğlu
OBJECTIVE: Backgroud Metabolic impairment in Type 1 Diabetes Mellitus (DM) with poor glycemic control causes insulin resistance, Non-Alcoholic Fatty Liver Disease (NAFLD) and atherosclerosis; thus, increased Carotid-intima media thickness (CIMT). The Fetuin-A has protective effect in cardiovascular disorders, which is increased in hepatosteatosis. We aimed to investigate reliability of Fetuin-A levels in early detection of diabetic complications in children with T1DM and to identify a cut-off value that may show poor metabolic control...
May 22, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515034/wrist-circumference-and-frame-size-percentiles-in-6-17-year-old-turkish-children-and-adolescents-in-kayseri
#3
Ahmet Öztürk, Betül Çiçek, M Mümtaz Mazıcıoğlu, Gökmen Zararsız, Selim Kurtoğlu
OBJECTIVE: The aim of the current study was to provide wrist circumference (WrC) and body frame size (Height/WrC) percentile values in Turkish children and adolescents aged 6-to-17 years. METHODS: In this cross-sectional study, the data of "the Determination of Anthropometric Measures of Turkish Children and Adolescents" study (DAMTCA II) in Kayseri/Turkey was used. A total of 4330 observations were recorded (1931 boys, 2399 girls). The WrC and frame size references were produced with generalized additive models for location, scale and shape (GAMLSS)...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515032/bilateral-painless-testicular-mass-acute-uveitis-and-annular-cutaneous-lesions-an-unusual-presentation-of-sarcoidosis-and-literature-review
#4
Enver Şimşek, Tülay Şimşek, Meliha Demiral, Funda Canaz, M Fuat Açıkalın
BACKGROUND: Sarcoidosis is a systemic inflammatory disease characterized by non-caseating epitheloid granulomas; whereas it usually involves the lungs and lymph nodes, genitourinary involvement is extremely rare. For this reason, no consensus regarding the diagnostic and management options for testicular sarcoidosis has been reached. OBJECTIVE: The aim of this case report was to describe an unusual clinical presentation of sarcoidosis. An 8-year-old boy presented with a 6-month history of painless scrotal enlargement and a 2-month history of photophobia, blurred vision, and pain in both eyes...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#5
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515030/congenital-central-hypothyroidism-caused-by-a-novel-tsh-beta-subunit-gene-mutation-c-94g-a-in-two-siblings
#6
Bayram Özhan, Özlem Boz Anlaş, Bilge Sarıtepe, Burcu Albuz, Nur Gündüz Semerci
Congenital central hypothyroidism (C-CH) is a very rare disease. Alterations in genes included in pituitary development, mutations of the immunoglobulin superfamily member 1 (IGSF1) and transducin β-like protein 1(TBL1X ) can result in C-CH with multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or TSH-beta (TSHB) gene are responsible for isolated congenital central hypothyroidism. In this paper, we present 2 patients from the same Turkish family with a novel mutation of TSHB...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28515029/tolvaptan-utilization-in-children-with-chronic-hyponatremia-due-to-inappropriate-antidiuretic-hormone-secretion-siadh-three-case-reports-and-review-of-the-literature
#7
Gerdi Tuli, Daniele Tessaris, Luisa De Sanctis, Patrizia Matarazzo
Hyponatremia is the most common electrolyte disorder among hospitalized patients and it is sometimes considered as a poor outcome predictor. Its correction is thus indicated, even in asymptomatic patients. The conventional treatment is represented by fluid restriction in presence of euvolemia or hypervolemia; whereas loop diuretics are used in some hypervolemic conditions (cardiac heart failure, liver cirrhosis and nephrotic syndrome) and intravenous isotonic or hypertonic solution are administered in hypovolemic conditions...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28443820/a-comprehensive-online-calculator-for-pediatric-endocrinologists-%C3%A3-edd-%C3%A3-%C3%A3-z%C3%A3-m-tpeds-metrics
#8
Korcan Demir, Samim Özen, Ergun Konakçı, Murat Aydın, Feyza Darendeliler
No abstract text is available yet for this article.
April 26, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28443817/childhood-sustained-hypercalcemia-a-diagnostic-challenge
#9
Nisa Eda Çullas İlarslan, Zeynep Şıklar, Merih Berberoğlu
OBJECTIVE: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention. METHODS: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. RESULTS: Twenty patients (11 male, 9 female) with a median age of 6,25 (0,03-17,88) years were evaluated...
April 26, 2017: Journal of Clinical Research in Pediatric Endocrinology
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
#10
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
#11
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
#12
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/28044991/age-specific-frequencies-and-characteristics-of-ovarian-cysts-in-children-and-adolescents
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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