The Impact of Vitamin D Status on Cardiometabolic Complications among Youth with Type 1 Diabetes Mellitus.
Authors: Shaikh AA, AlZahrani AM Abstract OBJECTIVE: There is an ongoing interest into the relationship between vitamin D status and diabetes control and complications. However data from Saudi Arabia are limited. our objective to determine the impact of vitamin D status on glycemic control and cardio-metabolic complications of children and adolescents with type 1 diabetes mellitus (T1DM) attending a tertiary care diabetes clinic in KSA. METHODS: Demographic, clinical and laboratory data of children and adolescents with T1DM attending King Abdulaziz Medical City-Jeddah, during 2010 - 2013 were retrospectively co...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Delayed Adrenarche May Be an Additional Feature of IGSF1 Deficiency Syndrome.
Authors: Hulle SV, Craen M, Callewaert B, Sjoerd J, Oostdijk W, Losekoot M, Wit JM, Turgeon MO, Bernard D, Schepper J Abstract Immunoglobulin superfamily member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases hypoprolactinemia and/or transient growth hormone (GH) deficiency. PATIENT: A male patient had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, TSH and PRL deficiency. His GH deficiency proved transient upon stopping GH at 19 years old, but deficiencies of TSH...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
Authors: Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B PMID: 26757828 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Long-term Outcome After Robotic-Assisted Gastroplication in Adolescents: Hunger Hormone and Food Preference Changes. Two Case Reports.
Conclusion Persistent weight loss after gastroplication is associated with a favorable change in gut hormones and food preferences. The role of hormonal and sensory components in long-term results seems crucial. A multidisciplinary approach and continuous nutritional care is mandatory for weight maintenance and consolidation of changes, particularly in adolescence. PMID: 26757831 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Letter to Editor, Reply: Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
Authors: Evliyaoğlu O PMID: 26757946 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

An Adolescent Boy with Anorexia Nervosa and Hashimoto Thyroiditis.
We present the case of a 15-year-old boy with comorbid AN restrictive sub-type and Hashimoto thyroiditis, In this case report our aim is to present these challenges that could be encountered in the diagnosis, treatment and follow-up of patients with AN, when accompanied by Hashimoto thyroiditis. PMID: 26757948 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.
CONCLUSION: Although the number of cases was limited and the mutation analysis techniques we used cannot detect all mutations, our findings emphasise the importance of the difference in arm span and height when selecting patients for SHOX gene testing. PMID: 26758084 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Menstrual Characteristics of Pubertal Adolescent Girls: A Questionnaire Based Study in Turkey.
CONCLUSION: Dysmenorrhea is common in adolescent Turkish girls and affected daily life in approximately half of the girls along with heavy menstrual bleeding. PMID: 26758209 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Evaluation of Periaortic Adiposity and Metabolic Disorders in Exogenous Obese Children.
This study examined the usefulness of echocardiographic measurement of aortic fat thickness in correlating with cardiovascular risk factors Methods: Two hundred and sixty three obese and 100 healthy children and adolescents were enrolled in the study. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in obese children and adolescents. RESULTS: Periaortic fat thickness was significantly higher in the obese group (p
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Health-Related Quality of Life is Associated with Metabolic Control in Children and Adolescents with Type 1 Diabetes Mellitus.
CONCLUSION: Although there was no correlation between metabolic control and HRQoL in children's self-reports, the improving HRQoL levels in parents' proxy-reports were associated with good metabolic control. PMID: 26758371 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome (NFNS).
CONCLUSION: Based on this case, it is argued that short stature is a feature of NFNS; however, in some cases it can be caused by GHD and patients with NFNS who are not growing sufficient should be evaluated for GHD. PMID: 26758488 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Relationship between Neck Circumference and Non-alcoholic Fatty Liver Disease in Childhood Obesity.
Authors: Hatipoğlu N, Doğan S, Mazicioğlu M, Kurtoğlu S Abstract OBJECTIVE: Body mass index, waist circumference, neck circumference (NC), mid-upper arm circumference and waist-height ratios were used as a reliable parameter for risk assessment. The aim of this study was to establish the association between anthropometric parameters and non-alcoholic fatty liver disease (NAFLD) and to determine the most reliable measurement as a parameter in predicting NAFLD. METHODS: Two-hundred fifty-three obese children were enrolled (10-18 years old) in this study. Anthropometric parameters were measured. Fasting blood ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

GnRH Analogue Treatment in Females with Early Puberty: No Effect on Final Height.
CONCLUSION: We found that GnRHa did not make a positive contribution to final height in cases aged 7-8.5 years with early puberty in this study. PMID: 26758571 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Maternal Obesity and its Short and Long Term Maternal and Infantile Effects.
Authors: Korkmaz L, Baştuğ O, Kurtoğlu S Abstract Obesity, in childhood or in adulthood, remains to be a global of health problem. The worldwide prevalence of obesity has increased in the last few recent decades, and consequently, the women of our time suffer more gestational problems than women in the past. The prevalence of obesity is greater in older women in older women than in younger ones, and in women with low educational level than in their counterparts with a higher level of education. Maternal obesity during pregnancy may increase congenital malformations and neonatal morbidity and mortality. Maternal ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Novel c.554+5C>T Mutation in the DUOXA2 gene Combinated with p.R885Q Mutation in the DUOX2 Gene Causes Congenital Hypothyroidism.
CONCLUSION: The novel splice-site mutation c.554+5C>T in the DUOXA2 gene and the mutation p.R885Q in the DUOX2 gene were identified in the boy with CH. PMID: 26758695 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

α-Melanocyte-Stimulating Hormone and Agouti-Related Protein: Do They Play a Role in Appetite Regulation in Childhood Obesity?
CONCLUSION: This study is the first to demonstrate body weight-related changes in α-MSH and AgRP levels in children. Circulating plasma α-MSH levels in obese children were markedly lower than those of underweight and normal-weight children. This suggests that α-MSH could play a role in appetite regulation. PMID: 26758700 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Evaluation of Iodine Deficiency in Children with Attention-Deficit/Hyperactivity Disorder.
Authors: Kanık Yüksek S, Aycan Z, Öner Ö Abstract OBJECTIVE: Evaluation of the incidence and effects on mental functions of iodine deficiency (ID) in lack of attention and disorders of comprehension, perception and learning were aimed. A prospectively review of children with attention-deficit/hyperactivity disorder (ADHD) from September 2009 to June 2010 was performed at Dr. Sami Ulus Maternity and Children's Training and Researh Hospital, in the central Turkey. Eighty-nine children diagnosed with ADHD were enrolled. METHODS: A questionnaire to the parents, Conners' rating scales to the parents ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Pediatric Reference Intervals for Free Thyroxine and Free Triiodothyronine by Equilibrium Dialysis-Liquid Chromatography-Tandem Mass Spectrometry.
CONCLUSIONS: Numerous significant differences were observed between pediatric age groups and previously established adult ranges. This emphasizes the need for well-characterized RIs for thyroid hormones in the pediatric population. PMID: 26758817 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical, genetic characteristics, management and long-term follow up of Turkish patients with congenital hyperinsulinism.
CONCLUSION: Mutations in the ABCC8 gene were the most common cause of CHI in our cohort. These mutations were identified in 85% of patients who underwent pancreatectomy. The development of diabetes mellitus after pancreatectomy may occur at any age, for that reason patients should be screened regularly. PMID: 26758964 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey.
CONCLUSION: Turkish people has a similar RET proto-oncogene mutation distribution when compared to other Mediterranean countries. Despite free RET gene testing, the number of the prophylactic thyroidectomies in Turkey is limited and relatively late in the life span of the carriers. This is mainly due to patient and family incompliance and incomplete family counselling. Healthcare professionals seem to be unsuccesful to overcome these problems for the moment. PMID: 26758973 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.
CONCLUSION: Analysis of Serbian patients with HI/HA syndrome confirms association of p.S445L and p.R221C mutations with hypoglycaemic seizures within first three months of life and subsequent risk for cognitive impairment and/or epilepsy. PMID: 26759084 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Prediabetes and Cardiovascular Parameters in Obese Children and Adolescents.
CONCLUSION: In this study, deterioration of cardiac function in prediabetic obese children and adolescents was shown. We recommend determining cardiovascular risk and cardiac dysfunction at early stages in prediabetic obese children and adolescentsdysfunction in the early stages in prediabetic obese children and adolescents. PMID: 26759114 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical presentation of a patient with a novel homozygous mutation in the TRPM6 gene.
We present clinical follow up of a pediatric HSH case due to a novel mutation in the TRPM6 gene. Furthermore, we aimed to highlight the requirement of molecular genetic analysis in the inbred or familial cases with hypomagnesemia. PMID: 26759217 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Effects of Thyroid Autoimmunity on Early Atherosclerosis in Euthyroid Girls with Hashimoto's Thyroiditis.
Authors: İşgüven P, Gündüz Y, Kılıç M Abstract OBJECTIVE: In the current study, we aimed to investigate whether thyroid autoimmunity (TA) had any effect on carotid intima media thickness (cIMT) and enhanced the risk of cardiovascular disease (CVD) independent of thyroid function (TF) in pubertal girls with Hashimoto's thyroiditis (HT). METHODS: Sixty-six newly diagnosed euthyroid girls with HT with a mean age of 14.4±2.4 years were included in the study. The control group consisted of 41 age- and BMI-matched healthy girls. At enrollment, all subjects underwent physical examinati...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Assessment of Anti-Müllerian Hormone Level in Management of Adolescents with Polycystic Ovary Syndrome.
CONCLUSION: This study investigated two different treatment regimens in adolescents with PCOS and revealed that AMH levels decreased with treatment. AMH levels were correlated with left ovarian volume. PMID: 26761944 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
This report details the initial case of the classical Mitchell Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene which have previously not been reported in patients with this syndrome. PMID: 26761945 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.
CONCLUSION: Presence of such mutation and polymorphism is a significant indicator of 5αRD2 deficiency in Southeast region of Turkey where consanguineous marriage is highly common. PMID: 26761946 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient.
We report on a 26-year-old German-Thai male with congenital hypothyroidism caused by a compound heterozygous mutation in the thyroid peroxidase (TPO) gene. He was diagnosed with congenital goitrous hypothyroidism at 4 months of age and had been treated with levothyroxine replacement therapy. His goiter size had increased due to poor compliance with treatment. Ultrasonography of the thyroid gland showed a suspicious pattern of malignancy. He later received near-total thyroidectomy. Pathology was multinodular goiter without malignancy. Genetic analyses by direct sequencing of the entire exons and flanking regions of TPO gene...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Thyroid Function and Thyroid Autoimmunity in Relation to Weight Status and Cardiovascular Risk Factors in Children and Adolescents: a Population-Based Study.
Authors: García García E, Vázquez López MÁ, García Fuentes E, Galera Martínez R, Gutiérrez Repiso C, García Escobar I, Bonillo Perales A Abstract OBJECTIVE: In obese subjects, slight increases have been observed in thyrotropin (TSH), but data in children are scarce. We aim to evaluate whether thyroid function and autoimmunity vary with weight status in a healthy population of children and adolescents and to determine whether hyperthyrotropinemia is associated with any cardiovascular risk factor. METHODS: Cross-sectional epidemiological study in Alme...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Sex Hormone Binding Globulin in Children and Adolescents.
Authors: Aydın B, Winters SJ Abstract Sex hormone binding globulin (SHBG) is a circulating glycoprotein that transports testosterone and other steroids in the blood. Interest in SHBG has escalated in recent years because of its inverse association with obesity and insulin resistance, and because many studies have linked lower circulating levels of SHBG to metabolic syndrome, type 2 diabetes, nonalcoholic fatty liver disease, polycystic ovary syndrome, and early puberty. The purpose of this review is to summarize molecular, clinical, endocrine and epidemiological findings to illustrate how measurement of plasma SHB...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 15, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.
Authors: Roženková K, Güemes M, Shah P, Hussain K Abstract Insulin secretion from pancreatic β-cells is tightly regulated to keep fasting blood glucose concentrations within the normal range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is a heterozygous condition in which insulin secretion becomes unregulated and its production persists despite low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. The most severe and permanent forms are due to congenital hyperinsulinism (CHI). Recent advances in genetics have linked CHI to ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Normative Data of Thyroid Volume-Ultrasonographic Evaluation of 422 Subjects Aged 0-55 Years.
Authors: Aydıner Ö, Karakoç Aydıner E, Akpınar İ, Turan S, Bereket A Abstract OBJECTIVE: To establish local normative data of thyroid volume assessed by ultrasonography in subjects aged 0-55 years living in İstanbul, Turkey. METHODS: Subjects without any known history of thyroid disease, of major surgery and/or chronic disease were enrolled in the study and evaluated by physical examination and thyroid ultrasonography. Thyroid gland and isthmus at usual location, each lateral lobe volume with three dimensions, ectopic thyroid tissue and echogenicity of the gland were assessed. RESULTS: Init...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Effects of Six-Month L-Thyroxine Treatment on Cognitive Functions and Event-Related Brain Potentials in Children with Subclinical Hypothyroidism.
CONCLUSION: SH affects cognition in children and L-T4 replacement therapy leads to normalization of cognitive functions. Neuropsychological tests can be used as complementary measures in the evaluation of children with SH. Determining the association between ERPs and SH would contribute to the comprehensive evaluation of these children. PMID: 26316431 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Evaluation of Pre-Treatment and Post-Treatment S100B, Oxidant and Antioxidant Capacity in Children with Diabetic Ketoacidosis.
Authors: Kaya C, Ataş A, Aksoy N, Kaya EC, Abuhandan M Abstract OBJECTIVE: The study aimed to evaluate the pre-treatment and post-treatment oxidant capacity, antioxidant capacity and S100B protein levels in cases of diabetic ketoacidosis (DKA). METHODS: The study included 49 pediatric patients diagnosed with DKA and a control group comprising 49 healthy children. Blood samples were obtained after confirmation of the DKA diagnosis and also after treatment. S100B, total oxidant (TOL) and total antioxidant levels (TAL) were measured and the oxidative stress index (OSI) was calculated. RESULTS: When the pre-tr...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Associations of Prenatal and Perinatal Factors with Cortisol Diurnal Pattern and Reactivity to Stress at Preschool Age Among Children Living in Poverty.
CONCLUSION: Pre- and perinatal factors are associated with cortisol patterning in offspring at preschool age. The implications for child health require additional studies. PMID: 26316433 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Long-Term Treatment with n-3 Polyunsaturated Fatty Acids as a Monotherapy in Children with Nonalcoholic Fatty Liver Disease.
Authors: Boyraz M, Pirgon Ö, Dündar B, Çekmez F, Hatipoğlu N Abstract OBJECTIVE: To investigate the efficacy and safety of n-3 polyunsaturated fatty acids (PUFA) treatment in obese children with nonalcoholic fatty liver disease (NAFLD). METHODS: One hundred and eight obese (body mass index (BMI)>95th percentile for age and sex) adolescents with NAFLD were included in the study. Mean age of the subjects was 13.8±3.9 years (9-17 yrs). The diagnosis of NAFLD was based on the presence of liver steatosis with high transaminases. The subjects were randomly divided into two groups. Group 1 ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Vitamin D Deficiency and Hashimoto's Thyroiditis in Children and Adolescents: a Critical Vitamin D Level for This Association?
Authors: Evliyaoğlu O, Acar M, Özcabı B, Erginöz E, Bucak F, Ercan O, Kucur M Abstract OBJECTIVE: Vitamin D has been suggested to be active as an immunomodulator in autoimmune diseases such as Hashimoto's thyroiditis (HT). The goal of the present study was to investigate the vitamin D status in HT patients. METHODS: This prevalence case-control study was conducted on 90 patients with HT (of ages 12.32±2.87 years) and 79 age-matched healthy controls (11.85±2.28 years). Serum 25-hydroxyvitamin D3 [25(OH)D3] levels were measured in all 169 subjects. RESULTS: The prevalence of vitamin ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Vitamin D Deficiency in Children and Adolescents in Bağcılar, İstanbul.
CONCLUSION: It is essential to provide supplemental vitamin D to children and adolescents to overcome the deficiency seen especially at the end of winter. PMID: 26316436 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.
This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset. PMID: 26316437 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression. PMID: 26316438 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Case of Subclinical Hypothyroidism with Lingual and Right Pretracheal Ectopic Thyroid.
Authors: Kim MS, Kong YH, Lee DY Abstract Ectopic thyroid tissue is most commonly located in a single location, this being the lingual area. Presentation with two ectopic thyroid foci is quite unusual. A girl patient aged 7 years who presented with complaints of two masses in the right anterior neck and submandibular area is reported. Her growth pattern and development were normal. The masses were detected to be dual ectopic thyroid glands by ultrasonography, computed tomography and 99m-technetium pertechnetate thyroid scan. The patient also had subclinical hypothyroidism. She was treated with oral levothyroxine an...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Nifedipine in Congenital Hyperinsulinism-A Case Report.
We report here a case of diazoxide-resistant CHI due to homozygous ABCC8 nonsense mutation. In this case, hypoglycaemia uncontrolled by pancreatectomy and octreotide alone showed a good response to a combination of nifedipine and octreotide. Octreotide was tapered off by one year age and thereafter the child is euglycaemic on oral nifedipine alone. Continuous glucose monitoring sensor was used as an aid to monitor glycaemic control and was found to be a safe and reliable option reducing the number of needle-pricks in small children. PMID: 26316440 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pe...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Dermal and Ophthalmic Findings in Pseudohypoaldosteronism.
Authors: Korkut S, Gökalp E, Özdemir A, Kurtoğlu S, Demirtaş Ş, Gül Ü, Baştuğ O Abstract Pseudohypoaldosteronism (PHA) is defined as a state of resistance to aldosterone, a hormone crucial for electrolyte equilibrium. The genetically transmitted type of PHA is primary hypoaldosteronism. Secondary hypoaldosteronism develops as a result of hydronephrosis or hydroureter. PHA patients suffer from severe hyponatremia and a severe clinical condition due to severe loss of salt can be encountered in the neonatal period. Dermal findings in the form of miliaria rubra can also develop in these patient...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.
Authors: Çatlı G, Alparslan C, Can PŞ, Akbay S, Kelekçi S, Atik T, Özyılmaz B, Dündar BN Abstract 46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner s...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 1, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

National childhood diabetes program activities in Turkey.
Authors: Hatun Ş Abstract Recent census figures in Turkey show that out of a population of 76.6 million, 22.7 million (29.7%) are younger than 18 years old. The great majority (>95%) of pediatric cases of diabetes in Turkey are type 1 diabetes mellitus (T1DM). In recent years, with increase in number of pediatric endocrine centers around the country, the important issue of care for diabetic children and adolescents has been revived and major steps have been taken for improvement in pediatric care and its outreach to all diabetic children. The Childhood Diabetes Group continues its activities in cooperation with...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

β-3AR W64R Polymorphism and 30-Minute Post-Challenge Plasma Glucose Levels in Obese Children.
CONCLUSION: W64R polymorphism of the β-3AR gene is not associated with obesity and waist-to-hip ratio in Turkish children. Although there were no relationships between the genotypes and lipid, glucose/insulin levels or HOMA-IR, the presence of W64R variant seemed to have an unfavorable influence on early glucose excursion after glucose loading. PMID: 25800470 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Ambulatory blood pressure and subclinical cardiovascular disease in patients with congenital adrenal hyperplasia: a preliminary report.
This study was designed to evaluate the metabolic and cardiovascular profile of a group of children with classical CAH from the perspective of cardiovascular risk. METHODS: Twenty-five CAH patients and 25 healthy controls were included in the study. Metabolic and anthropometric parameters were investigated and compared in these two groups. RESULTS: Subjects in the CAH group were shorter than the controls (p=0.001) and had higher body mass index values (p=0.033). Diastolic blood pressure (DBP) (p=0.027) and carotid intima-media thickness (CIMT) values (p=0.006) were also higher in the patient group. In 24% (n=6) of ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Metabolic and Histopathological Effects of Fructose Intake During Pregestation, Gestation and Lactation in Rats and their Offspring.
Authors: Sarı E, Yeşilkaya E, Bolat A, Topal T, Altan B, Fidancı K, Saldır M, Erdem G, Gülgün M, Kurt YG, Güven A Abstract OBJECTIVE: Studies have demonstrated a significant relationship between maternal fructose intake and metabolic outcome in their offspring. However, there is a paucity of data about the long-term effects of fructose intake on the offspring of fructose-fed dams. Therefore, we planned a study to evaluate the long-term effects of fructose intake on the offspring of dam rats fed a high-fructose diet. METHODS: Sixteen virgin female Sprague-Dawley rats were divided into two grou...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study.
CONCLUSION: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. PMID: 25800473 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Current Practice in Diagnosis and Treatment of Growth Hormone Deficiency in Childhood: A Survey from Turkey.
CONCLUSION: Although conformity was found among centers in Turkey in current practice, it is very important to update guideline statements and to modify, if needed, the approach to GHD over time in accordance with new evidence-based clinical studies. PMID: 25800474 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2015 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research