Achieving Optimal Short- and Long-Term Responses to Paediatric Growth Hormone Therapy
Authors: Wit JM, Deeb A, Bin-Abbas B, Al Mutair A, Koledova E, Savage MO Abstract It is over sixty years since the first administration of human growth hormone (GH) to children with GH deficiency, and over thirty years since recombinant human GH has been available for treatment of GH deficiency and a wider range of non-GH deficiency disorders. From a diagnostic perspective, genetic analysis, using single gene or Sanger sequencing and more recently next generation or whole exome sequencing, has brought advances in the diagnosis of specific causes of short stature, which has enabled therapy to be targeted more accura...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 12, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The subclinical Myocardial Dysfunction in Children with Euthyroid Hashimoto's Thyroiditis Demonstrated by Speckle Tracking Echocardiography
Conclusions: Conventional echocardiography does not exclude subclinical LV wall motion abnormalities in asymptomatic patients with eHT. The results show that myocardial function in children with eHT has impaired in the absence of any clinical symptoms and conventional echocardiography is inadequate to determine these changes. PMID: 31218876 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 22, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Catecholamine-Induced Myocarditis in a Child with Pheochromocytoma
Conclusion: It should be kept in mind that even if there are no signs and symptoms of catecholamine elevation, cardiomyopathy may be the first sign of PCC. PMID: 31208160 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 20, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene
This report describes the first MIRAGE syndrome patient in Turkey. PMID: 31208161 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 20, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China
Conclusion: : To the best of our knowledge, this is the first study of CHI in south China. Mutations in ABCC8 are the most common causes of CHI in this cohort. Diazoxide and dietary treatment were effective in most patients. Multicentre studies are necessary to obtain the long-term follow-up characteristics of such patients at the national level. PMID: 31208162 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 20, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Carney Complex: Unusual Presentation
In this report, we wanted to emphasize osteochondromyxoma, as a component of CNC. PMID: 31117334 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 24, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical and Biochemical Phenotype of Adolescent Males with Gynecomastia
Conclusions: The E2/TTE ratio may be a helpful tool in diagnosing gynecomastia. Altered E2/TTE ratio might be responsible for part of cases described previously as idiopathic. Additionally, weight loss does not imply reduction of breast size in boys, nonetheless it should be the first step before further treatment of prolonged gynecomastia. PMID: 31117335 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 24, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Liver Biochemical Abnormalities in Adolescent Patients with Turner Syndrome
Conclusions: Constantly elevated LFTs in TS are common in children and adolescents with TS. However the causes and clinical significance remain unclear, this study show, that obesity and HRT do not increase the risk of elevated LFTs. PMID: 31117336 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 24, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
Authors: Isik E, Onay H, Atik T, Solmaz AE, Ozen S, Cogulu O, Darcan S, Ozkinay F Abstract Neurofibromatosis Noonan Syndrome (NFNS) is a rare RASopathy syndrome, resulted from NF1 gene mutations. NFNS is characterized by phenotypic features of both Neurofibromatosis type 1 (NF1) and Noonan syndrome. Plexiform neurofibromas are an unusual finding of NFNS. A 7 year-old girl with typical clinical features of NF1 was referred to our clinic due to short stature and abnormal genital appearance. Regarding dysmorphic features a clinical diagnosis of NFNS was considered in the patient, and following molecular analysis revea...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 17, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Triglyceride Glucose Index as a Surrogate Measure of Insulin Sensitivity in a Caucasian Pediatric Population
Authors: Calcaterra V, Montalbano C, de Silvestri A, Pelizzo G, Regalbuto C, Paganelli V, Albertini R, Cave FD, Larizza D, Cena H Abstract Objective: The triglyceride and glucose (TyG) index has been proposed as a simple surrogate of insulin resistance (IR) with high sensitivity as an IR index besides the well known homeostasis model assessment of IR (HOMA-IR). Limited data are reported in children. We investigated the sensitivity and specificity of TyG index in a pediatric Caucasian population, as a surrogate measure of IR and compared the results with HOMA-IR. Methods: We enrolled 541 children (11.7±2....
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 17, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Study of Serum Neuron-Specific Enolase and S100 calcium-binding protein B in Pediatric Diabetic Ketoacidosis
Conclusion: Serum NSE is raised in patients with Type 1 DM and correlates with disease severity in patients with DKA. However, serum S100 B did not show any significant changes. PMID: 31067852 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 11, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Impact of Socioeconomic Characteristics on Metabolic Control in Children with Type One Diabetes in a Developing Country
Authors: Alassaf A, Odeh R, Gharaibeh L, Ibrahim S, Ajlouni K Abstract Background: Adequate glycemic control in children with type 1 diabetes reduces the risk of future complications. Identifying factors affecting HbA1c is crucial to achieve adequate metabolic control. We aim to identify possible socioeconomic predictors of poor metabolic control in children with type 1 diabetes in Jordan; which resembles a developing country with limited resources. Methods: Medical charts were reviewed for patients attending the pediatric endocrine clinics in two major diabetes centers. HbA1c ≥ 7.5% (58 mmol/mol) was consid...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 18, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Novel Mutations in Obesity-Related Genes in Turkish Children with Non-Syndromic Early Onset Severe Obesity: A Multicentre Study
Authors: Akıncı A, Turkkahraman D, Tekedereli I, Özer L, Evren B, Sahin İ, Kalkan T, Çürek Y, Çamtosun E, Doğer E, Bideci A, Güven A, Eren E, Sangün Ö, Çayır A, Bilir P, Törel Ergür A, Ercan O Abstract Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study is to screen 41 different obesity-r...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 18, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Letter to the Editor for manuscript entitled Extreme Premature Small for Gestational Age Infants Have Appropriate Catch-up Growth at Term Equivalence Compared with Extreme Premature Appropriate for Gestational Age Infants
Authors: Korkmaz HA PMID: 30991790 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 18, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Accuracy of Tri-ponderal Mass Index and Body Mass Index in Estimating Insulin Resistance, Hyperlipidemia, Impaired Liver Enzymes or Thyroid Hormone Functions and Vitamin D Level in Children and Adolescents
Conclusion: When we use TMI, we may have a risk of skip over the insulin resistance. However, If we assume that liver enzymes are elevated as a finding of visceral adiposity, TMI can be used as an auxiliary parameter to show visceral effects of adiposity. Normal TMI may indicate that visceral organ functions have not deteriorated yet. PMID: 30991791 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 18, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Syndromic Disorders Caused by Disturbed Human Imprinting
Authors: Carli D, Riberi E, Ferrero GB, Mussa A Abstract Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting and affecting prenatal and postnatal growth, neurocognitive development, metabolism and cancer predisposition. Aberrant expression of imprinted genes can be achieved through different mechanisms, classified into epigenetic --- if not involving DNA sequence change --- or genetic --- in case of altered genomic sequence. Despite the underlying mechanism, the phenotype depends on the parental allele affected and opposite phenotypes may result in case of involveme...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 11, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Aromatase Deficiency in Two Siblings with 46, XX KaryotypeRraised as Different Genders: A Novel Mutation (p.R115X) in CYP19A1 Gene
In conclusion, 46, XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if no history of maternal virilisation during pregnancy is present. PMID: 30968679 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 11, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Hypophosphatasia: Novel Mutation Associated With An Atypical Newborn Presentation
We report the case of a preterm newborn in whom a corneal opacity was detected at birth. Blood tests performed to investigate this finding showed low alkaline phosphatase concentrations. The corneal opacity disappeared within a week but alkaline phosphatase remained persistently low. With persistently decreased levels of alkaline phosphatase, upon suspicion of hypophosphatasia, plain radiography detected changes suggestive of rickets. Sequencing of the ALPL gene revealed a heterozygous variant that has not been described in the literature to date. Our patient’s condition could be an atypical neonatal form of the synd...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 3, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Development of Insulin Treatment Self-Management Scale Child Form (ages 8-18) and Parent Form
Conclusions: This study presents a valid and reliable scale for measuring insulin treatment self-management in children with type 1 diabetes. The scale is absolutely crucial to determine insulin treatment self-management in children with type 1 diabetes and their parents as well as effective nursing care. PMID: 30905141 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 27, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation
Conclusions: A compound heterozygous mutation of KISS1 gene causes normosmic idiopathic hypogonadotropic hypogonadism and also incomplete puberty in a non- consanguineous family. PMID: 30905142 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 27, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Intrauterine twin discordancy followed by partial postnatal catch-up growth in a girl with a pathogenic IGF1R mutation
Conclusions: The pathogenic IGF1R mutation in this girl led to intrauterine growth retardation followed by partial postnatal catch-up growth. Height in mid-childhood was in the lower half of the reference range, but still 1.7 SD shorter than her twin brother. PMID: 30859796 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 14, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Glucose Metabolism Evaluated By Glycated Hemoglobin And Insulin Sensitivity Indexes In Children Treated With Recombinant Human Growth Hormone
Authors: Pellegrin MC, Michelon D, Faleschini E, Germani C, Barbi E, Tornese G Abstract Objective: To evaluate glucose metabolism and insulin sensitivity in children with idiopathic growth hormone (GH) deficiency treated with recombinant human GH (rhGH) and to identify possible risk factors for the development of glucose abnormalities in this population. Methods: We retrospectively collected data from 101 patients (60 males, median age 10.4 years, 77 prepubertal), with confirmed GH deficiency, enrolled before starting rhGH and followed up for the first three years of treatment. Glucose metabolism was evaluated ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 5, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Erratum
Authors: PMID: 30799596 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 26, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Editorial: Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey
Authors: Bereket A PMID: 30786706 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 24, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation
Authors: Kang S, Kang YK, Lee JA, Kim DH, Lim JS Abstract Osteopetrosis is a rare genetic disease characterized by increased bone density and bone breakage due to defective osteoclast function. Autosomal dominant osteopetrosis type II, Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis, and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 gene. The patient spine showed multiple sclerotic changes including sandwich...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 16, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Associations Between Serum Uric Acid Levels and Cardiometabolic Risk, Renal İnjury in Obese and Overweight Children
Conclusions: The presence of MetS, IR and dislipidemia rises with increasing SUAL independently of age, puberty, gender and body mass index (BMI) in OB/OW children. Patients with all of the MetS criteria had the highest SUAL. These results demonstrated that association between UA and metabolic and cardiovascular risk factors could be detectable as early as in childhood. Thus, we recommend monitoring SUAL in OB children and we believe that prevention of SUAL elevation in early life has a potential protective effect on metabolic impairment and subsequent comorbidities. PMID: 30759960 [PubMed - as supplied by publisher] (...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 16, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Evaluation of IGF1/IGFBP3 Molar Ratio as an Effective Tool for Assessing the Safety of GH Therapy in Small-for-Gestational-Age, GH-Deficient and Prader-Willi Children
Conclusions: We consider IGF1/IGFBP3 molar ratio to be a useful additional parameter for assessing therapeutic safety on rGH, keeping values within the normal range for age and pubertal stage. PMID: 30759961 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 16, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Pitfalls with Vitamin D Research in Musculoskeletal Disorders and Recommendations on How to Avoid Them
Authors: Kiebzak GM, Neal KM, Hossienzadeh P, Olney RC, Levine MA Abstract Reports suggesting that vitamin D may have extraskeletal roles have renewed interest in vitamin D research and stimulated publication of an increasing number of new studies each year. These studies typically assess vitamin D status by measuring the blood concentration of 25-hydroxyvitamin D (25[OH]D), the principal circulating metabolite of vitamin D. Unfortunately, variations in assay format, inconsistency in interpreting 25(OH)D concentrations, cohort bias (age, BMI, race, season of measurements etc.) and failure to measure critical variab...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 16, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

No Associations Between Serum Lipid Levels or HOMA-IR and Asthma in Children and Adolescents: a NHANES Analysis
Conclusion: This cross-sectional study found no associations between abnormal serum lipids or HOMA-IR and the presence of current asthma in children or adolescents. PMID: 30759963 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 16, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
We describe a patient with ALS deficiency with a novel homozygous frameshift mutation in IGFALS presenting with short stature and delayed puberty but ultimately achieving an adult height (AH) comparable to his target height (TH). A 15 3/12 year old boy presented with short stature (149.9 cm, –3.04 SDS). The patient had a low circulating IGF-1 level, extremely low IGFBP-3 level, insulin resistance and osteopenia. The peak growth hormone (GH) response to GH stimulation test was high (31.6 ng/mL). Sequencing of IGFALS revealed a novel homozygous frameshift mutation (p.Ser555Thrfs.19). His mother and elder sister were he...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 6, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Effect of Education on Impaired Hypoglycemia Awareness and Glycemic Variablity in Children and Adolescents with Type 1 Diabetes Mellitus
Conclusion: CGM is a valuable tool to diagnose impaired hypoglycemia awareness. IHA, GV and time in range can be improved by education-based intervention. PMID: 30701953 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 2, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report
In conclusions, we identified a novel GH1 gene mutation in an infant with classical IGHD type II presentation. PMID: 30678423 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 27, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Risk factors for childhood overweight and obesity in Ukraine and Germany.
CONCLUSION: Similar risk factors for obesity were observed among two groups of children in UA and DE. Differences were observed regarding the prevalence of specific risk factors for childhood obesity. To our opinion, the population-specific distribution of risk factors has to be considered in order to optimize prevention and treatment strategies. PMID: 30630809 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 13, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome.
Authors: Zhang X, Fan Y, Liu X, Ang Zhu M, Sun Y, Yan H, He Y, Ye X, Gu X, Yu Y Abstract Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS is featured by intellectual disability (ID), developmental delay (DD), obesity, epilepsy, characteristic face and anomalies of fingers and toes. Endocrinological phenotypes and relevant outcome of treatment in this condition remains to be delineated. Here we report a patient with presentations beyond the classic BFLS - the patient exhibited complete growth hormone deficiency, and adverse effects were elicited after hormon...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 13, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Evaluation of Etiological Distribution and the Rate of Congenital Hypothyroidism among the Cases Referred from National Screening Program.
CONCLUSION: The rate of diagnosis in the first month was found to be 87%. The mean time of initiation of treatment was 22(7-53) days. Dysgenesis rate was 33.3% and dyshormonogenesis rate was 33.3%. The majority of cases with normal thyroid gland will be diagnosed with transient hypothyroidism but some of them may be diagnosed with thyroid dyshormonogenesis. PMID: 30630811 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 13, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Early menarche is a risk factor of short stature in young Korean female: Epidemiologic study
Authors: Kang S, Kim YM, Lee JA, Kim DH, Lim JS Abstract Objective: We investigated the association between age at menarche and adult height (and body mass index; BMI) in young Korean female. We also investigated whether early menarche (
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 5, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Vitamin D deficiency and insufficiency According to the Current Criteria for Children: Vitamin D status of elementary school children in Turkey
CONCLUSION: Vitamin D deficiency is a widely observed and preventable public health problem among children of different ages. It is necessary to increase the awareness, and providing 25(OH)D supplements will yield generations with healthy bone structure and well growth. PMID: 30592191 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 30, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Elevated Random Luteinizing Hormone Is Unreliable Indicator for Pubertal Suppression in Girls Treated with Monthly Leuprolide for Idiopathic Central Precocious Puberty
Authors: Wiromrat P, Panamonta O Abstract Objective: Longitudinal data in random luteinizing hormone (LH) concentrations in patients with idiopathic central precocious puberty (ICPP) during treatment are limited. Therefore, we sought to evaluate random LH and estradiol concentrations during monthly leuprolide injection and its associations with pubertal progression and final adult height (FAH) in girls with ICPP. Methods: Medical records of 27 ICPP girls who attained FAH were reviewed. Patients’ height, weight, Tanner stage, growth rate (GR), bone age, random LH, follicular-stimulating hormone (FSH) and e...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 30, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Evaluation of unfavorable cardiovascular and metabolic risk factors in children and young adults with haemophilia
Authors: Yıldız M, Özdemir N, Önal H, Koç B, Eliuz Tipici B, Zülfikar B Abstract Objective: Increased risk of unfavorable cardiovascular risk factors has been defined in the aging population of haemophilia however they were less investigated in young patients. The purpose of this study was to assess obesity, hypertension, metabolic variables, insulin resistance and metabolic syndrome in young patients with haemophilia (PwH). Methods: Forty-eight haemophilia A and B patients and 35 age and sex matched healthy controls were included. Anthropometric measurements, blood pressure, fasting glu...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 26, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy
We report the case history of a 27 year old female CGL1 patient presenting with unusual additional development of non-diabetic peripheral neuropathy (PN) and learning disabilities in early adolescence. Whole exome sequencing (WES) of the patient genome identifies a novel rare variant homozygous for a 52 bp intronic deletion in the AGPAT2 locus uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis. Functional studies using RNA isolated from patient peripheral blood leucocytes show abnormal RNA splicing resulting in the loss of 25 amino acids from patient AGPAT2 protein coding sequence. ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 21, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Magnesium and anti-phosphate treatment with bisphosphonates for Generalised Arterial Calcification of Infancy: a case report
Authors: Dursun F, Atasoy Öztürk T, Güven S, Kırmızıbekmez H, Seymen Karabulut G, Kalın S, Sözeri B Abstract Generalized arterial calcification of infancy (GACI) is a rare autosomal- recessive disorder characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries, and resultant arterial stenosis. Treatment with bisphosphonates has been proposed as a means of reducing arterial calcifications in GACI patients, although there is no formalized treatment approach. The case reported here is a patient with severe GACI diagnosed at 3 months of ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 13, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Management of thyrotoxicosis in children and adolescence: a Turkish multi-center experience.
CONCLUSION: This study demonstrated that using anti-thyroid drugs with the hope that the patients will enter a remission over time is generally accepted first-line approach in Turkish children and adolescents with GD, however, this approach achieved low remission rate which was consistent with previous studies. PMID: 30488822 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 1, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Cleidocranial Dysplasia Case with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment.
In conclusion hypoplasia or aplasia of the clavicles, failure of cranial suture closure, dental anomalies, and short stature should bring CCD to mind. We present a novel mutation in the RUNX2 gene for CCD. We obtained growth velocity gain with GH treatment in our patient. PMID: 30468148 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 24, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and one year follow-up under enzyme replacement therapy; a case report.
Authors: Hacıhamdioğlu B, Özgürhan G, Pereira C, Tepeli E, Acar G, Cömert S Abstract Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia. The newborn was evaluated for respira¬tory failure and generalized hypotonia after birth. Diagnosis of HPP was based on low-serum ALP activity, ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 24, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.
CONCLUSIONS: The patient is molecularly and clinically diagnosed with type 1 LCH, which is caused by novel, compound heterozygous variants of the LHCGR gene. This report expanded the genotypic spectrum of LHCGR variants. PMID: 30444213 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 19, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Urine Levels of Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Children with Type 1 Diabetes Mellitus.
Authors: Yürük Yıldırım Z, Yılmaz A, Pehlivanoğlu C, Gedikbaşı A, Yıldız M, Dirican A, Bundak R, Darendeliler F, Emre S, Nayır A Abstract OBJECTIVE: Histopathological changes of the kidney in type 1 diabetes mellitus (T1DM) begin before the microalbuminuria. Therefore, efforts are focused on finding a biomarker for the detection of early diabetic kidney injury. The aim of the study is to determine whether urine levels of indicators of fibrosis alter in diabetic children and if they may predict a progressive renal injury in T1DM. METHODS: Urinary matrix metalloproteinase 2 and 9 (MMP2 and MMP...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 7, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey.
CONCLUSIONS: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature thus far. Hyperprolactinemia is more common in females, and cabergoline is highly effective and practical to use in adolescents due to its biweekly dosing. Surgery indication should be revised in childhood. PMID: 30396878 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 7, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Comparison of Treatment Regimens for the Management of Severe Hypercalcemia due to Vitamin D Intoxication in Children.
Authors: Demir K, Döneray H, Kara C, Atay Z, Çetinkaya S, Çayır A, Anık A, Eren E, Uçaktürk A, Can Yılmaz G, Törel Ergür A, Kendirci M, Aycan Z, Bereket A, Aydın M, Orbak Z, Özkan B Abstract BACKGROUND/AIMS: No large study has been conducted so far to compare the efficiencies of prednisolone, alendronate, and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. We aimed to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. METHODS: A standard questionnaire was uploaded...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 7, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome
Authors: Maffre I, Vincenti M, Dalla Vale F, Amouroux C, Werner O, Meilhac A, de Barry G, Amedro P PMID: 30362323 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 28, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Evaluation of Normal Thyroid Tissue and Autoimmune Thyroiditis in Children Using Shear Wave Elastography
Conclusions: SWE is a useful imaging method that can be used with routine US in evaluation of the thyroid in children. PMID: 30362325 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 28, 2018 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research