Wolcott-Rallison syndrome with novel EIF2AK3 gene mutation.
Authors: Gürbüz F, Yüksel B, Topaloğlu AK PMID: 27145240 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 5, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Corticosterone methyl oxidase deficiency type I with normokalemia in an infant.
We described a Turkish patient with aldosterone synthase deficiency presenting with failure to thrive and salt-wasting but with normal potassium levels in infancy. Urinary steroid characteristics were compatible with CMO I deficiency. Diagnosis of aldosterone synthase deficiency was confirmed by mutational analysis of the CYP11B2 gene, which identified the patient as homozygous for two mutations c.788T>A (p.Ile263Asn) and c.1157T>C (p.Val386Ala). Family genetic study revealed the mother was heterozygous for c.788T>A and homozygous for c.1157T>C and that the father was heterozygous for both c.788T>A and c.115...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The growth characteristics of patients with Noonan syndrome, and first 3 years results of GH treatment: A Nationwide multicenter study.
CONCLUSION: In short statured patients with different systemic clinical features, diagnosis of NS should be keep in mind. GH therapy is effective for improvement of short stature especially in the first two year treatment. However this effect is under 0.5 SD heigt SD increment which is a relevant indicator of good response to GH therapy. We suggest that optimisation of growth hormone therapy and final height data are needed for this patients. PMID: 27125300 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Anti-Müllerian hormone and inhibin-A levels may be used as surrogates of polycystic ovary syndrome in adolescents, but not inhibin B or insulin-like growth factor-3: Preliminary Results.
Anti-Müllerian hormone and inhibin-A levels may be used as surrogates of polycystic ovary syndrome in adolescents, but not inhibin B or insulin-like growth factor-3: Preliminary Results. J Clin Res Pediatr Endocrinol. 2016 Apr 29; Authors: Yetim A, Yetim Ç, Baş F, Erol OB, Çığ G, Uçar A, Darendeliler F Abstract OBJECTIVE: Polycystic ovary syndrome(PCOS)is a common endocrinologic problem in adolescents with an increasing prevelance of 30%.Pursuing new biomarkers with high specificity and sensitivity in the diagnosis of PCOS in adolescents is currently an active area of resea...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Soluble Endoglin levels are increased before the development of subclinical structural vascular alterations in diabetic adolescents.
CONCLUSION: Soluble endoglin concentrations might increase in parallel to the deterioration in endothelial function before the evidence of subclinical structural vascular alterations in adolescents with T1DM. PMID: 27097763 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 24, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Hidden toxicity in the NICU: Phthalate exposure of very low birth weight infants.
Authors: Demirel A, Çoban A, Yıldırım Ş, Doğan C, Sancı R, İnce Z Abstract OBJECTIVE: To determine the exposure to endocrine-disrupting phthalates in preterm infants in the Neonatal Intensive Care Unit. METHODS: Urine samples (n:151) from 36 preterm infants (
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 24, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.
CONCLUSION: Endocrine dysfunction in patients with IMDs is relatively rare. For this reason, there is no need to conduct routine endocrine evaluations in most patients with IMDs unless a careful and detailed history and a physical examination point to an endocrine dysfunction. PMID: 27086477 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Are vitamin D drops containing 400 IU daily adequate for preventing vitamin D deficiency?
Authors: Korkmaz HA PMID: 27086556 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A novel null mutation in P450 aromatase gene (CYP19A1) associated with the development of hypoplastic ovaries in humans.
CONCLUSION: A novel 568C insertion mutation in CYP19A1 can lead to severe aromatase deficiency. Homozygosity for this mutation is associated with the development of hypoplastic ovaries. This finding provides an important genetic marker for understanding the physiological function of aromatase in fetal ovarian development. PMID: 27086564 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course.
CONCLUSION: Our regional follow-up data showed that the more than half of newborns with primary CH had transient thyroid dysfunction. In the majority of cases, discrimination between transient and permanent CH could be made before 3 years of age owing to early cessation of treatment with low dose L-thyroxin. PMID: 27086592 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1.
CONCLUSION: Our findings strongly suggest that SRA1 gene function is required for initiation of puberty in humans. Furthermore, SRA1 with alternative products and functionality may provide a potential explanation for versatility and complexity of puberty. PMID: 27086651 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Investigation The Effects Of Functions Of Regulatory T Cells And Vitamin D In Children With Chronic Autoimmune Thyroiditis.
CONCLUSION: In the pediatric patients with CAT, FoxP3 expression is decreased. This reduction seems to be associated with vitamin D levels. Vitamin D can play a role in enhancing natural Treg cells functions. PMID: 27086659 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Phenotype, sex of rearing, gender re-assignment and response to medical treatment in extended family with a novel mutation in the SRD5A2 gene.
We report an extended family with 11 affected members. The family displayed various phenotype on presentation leading to different sex of rearing. Some family members reassigned gender at various stages of life. The index case was born with severe undervirilization with bilaterally palpable gonads and was raised as male from birth. The patient had a 46 XY karyotype and had a high Testosterone dihydrotestosterone ration (33). A novel homozygous deletion of exon 2 of the SRD5A2 gene was detected in the index case. Both parents were found to be carriers for the gene deletion. The patient had masculinizing surgery and a course...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Cellular Trace Element Changes in Cases with Type 1 Diabetes Treated by Intensive Insulin.
CONCLUSION: The increased retention value following the iv Mg tolerance testing indicates intracellular Mg deficiency in children with T1DM. PMID: 27086726 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Pyridoxine Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL gene.
Authors: Nur BG, Celmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mihci E Abstract Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult, and is often missed out or delayed. It is classified into subtypes based on the age of onset and clinical features. The clinical severity is associated wi...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Neonatal Thyroid Stimulating Hormone Screening as a Monitoring Tool for Iodine Deficiency in Turkey.
Authors: Çaylan N, Tezel B, Özbaş S, Şahin N, Aydın Ş, Deniz A, Keskinkılıç B Abstract OBJECTIVE: Thyroid stimulating hormone (TSH) level in neonates is recommended as an indicator for the degree of iodine deficiency (ID) at a population level and as a monitoring tool in programs of iodine supplementation.The purpose of this study was to analyze neonatal TSH levels to predict the current status of iodine nutrition in Turkey, based on data from the National Newborn Screening Program (NNSP) for congenital hypothyroidism (CH) in 2014.> Methods:According to screening methodology, heel-prick ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Identification and functional characterization of a CaSR mutation in an infant with Familial Hypocalciuric Hypercalcemia.
CONCLUSION: We have shown that the c.772_773delGTinsA mutation causes a significant alteration of CaSR function, leading to features of FHH in an affected young infant, since the first months of life. PMID: 27087013 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Complex glycerol kinase deficiency and adrenocortical insufficiency in the neonate.
We describe our experience with two such patients who presented with dysmorphic facies, AI, and 17-hydroxyprogesterone levels below 10 ng/ml; they were both found to have Xp21.2 deletions. We conclude that AI in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation. PMID: 27087023 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Environmental contaminants and pancreatic beta-cells.
Authors: Fabricio G, Malta A, Chango A, Mathias PC Abstract Despite health policies as well as clinical and research efforts, the prevalence of diabetes is increasing worldwide. There are many risk factors for metabolic dysfunction, with most being related to familial background, a Western diet, which is rich in fat/carbohydrates, and a sedentary lifestyle. Type 2 diabetes involves malfunction of primary pancreatic beta-cells that is usually attributed to local damage. However, the disease can be associated with other stress-inducing environmental agents, such as chemical contaminants from food, plastic and air. In...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The relationship between maternal gestational impaired glucose tolerance with the risk of large for gestational age infants: A meta-analysis of 14 studies.
CONCLUSION: Gestational IGT is an independent predictor of neonatal LGA. PMID: 27087160 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Fluoxetine induced Hypoglycaemia in a patient with persistent form of Congenital Hyperinsulinism (CHI) on Lanreotide Therapy.
We report a patient with persistent congenital hyperinsulinism (CHI) who developed recurrent hypoglycaemia following Fluoxetine therapy. A 15-year-old girl with persistent CHI was initially managed with diazoxide therapy. She developed troublesome hypertrichosis, which affected her quality of life adversely. Diazoxide was then slowly weaned and stopped with the introduction of Octreotide, to which she responded well. Subcutaneous Lanreotide (long acting somatostatin analogue) was subsequently commenced (30mg, once monthly) as injecting Octreotide multiple times a day was proving to be difficult for the patient. The continu...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Novel Mutation In Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome In A Patient Presenting With Gynecomastia At Puberty.
CONCLUSION: The diagnosis of PAIS is based upon clinical phenotype and laboratory findings, and can be confirmed by detection of a defect in the AR gene. An accurate approach including a detailed family history suggesting an X-linked trait is an important clue to arrive at a quick diagnosis. PMID: 27087292 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Rare Side Effect of GnRH Agonist Treatment in Precoccious Puberty: Pseudotumor Cerebri.
We presented a girl had precocious puberty treated with triptorelin acetate who developed pseudotumor cerebri after 4th dose. She had headaches and her blood pressure detected> 99 percentile. There were no causes underlying of hypertension such as cardiac, renal or endocrine. Neurological examination was normal except bilateral papilledema. Cranial magnetic resonance imaging was normal. Cerebrospinal fluid (CSF) opening pressure was detected elevated. Triptorelin therapy was ceased and CSF pressure back to normal. We observed pseudotumor cerebri after the puberte precocious treatment, for the first time ever seen in chi...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Indices Of Glucose Homeostasis In Cord Blood Of Term And Preterm Newborns.
CONCLUSION: Higher insulin and HOMA-IR in preterm newborns in cord blood imitate the intrauterine origin of changes which has positive correlation of gaining weight and development of insulin resistance in later life if not elucidated early. PMID: 27087404 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Leptin prediction of weight gain in newborns is not improved by adding multiple adipokines into the model.
CONCLUSION: Adding adiponectin, IL-6, MCP-1, resistin, PAI-1, TNF-α to the prediction model of weight gain in healthy newborns was not useful. Also, it is probable that their relative contribution to weight gain is not important. Only leptin was relevant as a predictor of weight gain at the 3-month endpoint. PMID: 27087431 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Comparison of bone mineral density in adolescent girls with the diagnosis of hypogonadotropic hypogonadism and hypergonadotropic hypogonadism.
CONCLUSION: BMD z-score was found similar in adolescent girls with hypogonadotropic and hypergonadotropic hypogonadism. FSH level was not found to have a clinically relevant impact on BMD. PMID: 27087454 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A new biomarker for the early diagnosis of renal damage in obese children; urine netrin-1 level.
CONCLUSION: Urine netrin-1 level could be increased in normotensive and normoalbuminuric obese children before albuminuria. Urinary netrin-1 excretion seemed to be affected predominantly by insulin resistance and hyperinsulinemia. Urine netrin-1 may be a new biomarker for determining early tubular injury in obese children. PMID: 27087488 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Gonadoblastoma and papillary tubal hyperplasia in ovotesticular syndrome.
CONCLUSION: Laparoscopic examination and gonadal biopsy for histopathological diagnosis remain the cornerstones for a diagnosis of ovotesticular DSD. Moreover, SRY positivity in a 46,XX patient, a 46,XY karyotype, an intra-abdominal gonad, and the age of patient at the time of diagnosis are predictive risk factors for the development of gonadoblastoma and/or dysgerminoma in ovotesticular DSD.The presence or absence of SRY should be routinely investigated in patients with DSD because if a patient with ovotesticular DSD has Y-chromosome or SRY positivity, ovotestes or streak gonads should be excised before the development of...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Role Of Active Video Accompanied Exercıses In Preventing Obesity In Children: A Prospective Study From Turkey.
Authors: Kokaçya MH, Duman F, Doğru E, Katayıfçı N, Canbay Ö, Aman F Abstract OBJECTIVE: The aim of this study is to determine the effects of active video games and music accompanied aerobic and callisthenic exercises on body mass index (BMI), body fat ratio, physical performance tests, psychosocial status, and self-respect of slightly overweight and obese adolescents. METHODS: Fifty (21 males and 29 females) slightly overweight and obese participants with no chronic disorder and an average age of 12.16 ± 0.99 were included in the study.The percentile value of BMI, triceps skinfold ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Attitudes of pediatricians regarding prevention and treatment of vitamin D deficiency.
CONCLUSION: This study showed that majority of the pediatricians still prescribe vitamin D prophylaxis late, recommend high doses of vitamin D in the case of delayed tooth eruption and think that low serum 25OHD vitamin D level regardless of ALP or PTH measurement is an indication for high dose (stoss therapy) vitamin D. These results suggest a need for new training programs focusing on vitamin D supplementation. PMID: 27087583 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Novel missense mutation in the CLPP gene causes Perrault Syndrome type-3 in a Turkish family.
This study expands the mutation spectrum of CLPP pathogenicity in PRLTS type-3 phenotype. PMID: 27087618 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Role of Urbanization in Childhood Obesity.
Authors: Pirgon Ö, Aslan N Abstract Obesity is becoming the most frequently diagnosed chronic disease in many countries affecting all age groups and specifically the pediatric population. To date, most approaches have focused on changing the behavior of individuals with respect to diet and exercise. Almost all researchers agree that prevention could be the key strategy for controlling the current epidemic of obesity. Prevention may be achieved by changes in lifestyle through a variety of interventions targeting the urban environment, physical activity, time spent watching television and playing computer games ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Effect of Maternal Factors and Fetomaternal Glucose Homeostasis on Birth Weight and Postnatal Growth.
CONCLUSION: The control of maternal BMI and prevention of overt weight gain during pregnancy may prevent excessive birth weight. The effect of the in utero metabolic environment on the weight and length SDS of infants born LGA persists until at least two years of age. PMID: 26831549 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Elevated Urinary T Helper 1 Chemokine Levels in Newly Diagnosed Hypertensive Obese Children.
Authors: Övünç Hacıhamdioğlu D, Zeybek C, Gök F, Pekel A, Muşabak U Abstract OBJECTIVE: Increasing evidence suggests that T helper (Th) cells play a significant role in the pathogenesis of hypertension. The aim of this study was to evaluate the effect of obesity and anti-hypertensive treatment on urinary Th1 chemokines. METHODS: The study groups consisted of three types of patients: hypertensive obese, healthy, and non-hypertensive obese. Pre-treatment and post-treatment samples of the hypertensive obese group and one sample from the other two groups were evaluated for urinary chemokine...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.
CONCLUSION: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients. PMID: 26831551 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Plasma Kisspeptin Levels in Newborn Infants with Breast Enlargement.
CONCLUSION: The findings of this study suggest that plasma kisspeptin and serum prolactin levels may be involved in the physiopathology of breast enlargement in newborns. PMID: 26831552 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Correlation of Brain Neuropeptide (Nesfatin-1 and Orexin-A) Concentrations with Anthropometric and Biochemical Parameters in Malnourished Children.
CONCLUSION: The positive correlation of nesfatin-1 and the negative correlation of orexin-A with BMI suggest that these neuropeptides may be a part of a protective mechanism in the maintenance of nutritional status and that they may have a role in regulating food intake in undernourished children. PMID: 26831553 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Effects of Diabetic Ketoacidosis on Visual and Verbal Neurocognitive Function in Young Patients Presenting with New-Onset Type 1 Diabetes.
CONCLUSION: Pediatric patients presenting with newly diagnosed type 1 diabetes and severe but uncomplicated DKA showed a definite trend for lower cognitive functioning when compared to the age-matched patients without DKA. PMID: 26831554 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Role of Thyrotropin-Releasing Hormone Stimulation Test in Management of Hyperthyrotropinemia in Infants.
CONCLUSION: TRH test response could be a useful diagnostic test to evaluate the persistence of the disease during the infantile age period. PMID: 26831555 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Relationship Between Functional Exercise Capacity and Lung Functions in Obese Chidren.
CONCLUSION: Functional exercise and lung capacities of obese children were diminished as compared to those of non-obese children. The most important factor influencing functional exercise capacity was BMI-SDS. PMID: 26831556 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Assessment of Cardiovascular Parameters in Obese Children and Adolescents with Non-Alcoholic Fatty Liver Disease.
Authors: Eklioğlu BS, Atabek ME, Akyürek N, Alp H Abstract OBJECTIVE: The aim of this study was to evaluate the periaortic fat thickness (PAFT) using conventional echocardiography in obese children and adolescents with non-alcoholic fatty liver disease (NAFLD). METHODS: Two hundred and ninety-seven obese children and adolescents were included in the study. Anthropometric measurements were made in all subjects, and fasting venous blood samples were taken for determination of glucose, insulin, total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycer...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Prevalence of Dyslipidemia and Associated Factors in Obese Children and Adolescents.
CONCLUSION: Prevalence of dyslipidemia is high in obese children, and hypertriglyceridemia is in the foreground. Higher levels of IR and more apparent abnormal liver function test results are observed in the context of dyslipidemia and hepatosteatosis coexistence. Metabolic and hormonal alterations related with thyroid functions may also be associated with dyslipidemia and hepatosteatosis in obese patients. PMID: 26831558 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Relationship Between Timing of Peak Height Velocity and Pubertal Staging in Boys and Girls.
Authors: Granados A, Gebremariam A, Lee JM Abstract Growth and pubertal development are important health markers. We used the data of a longitudinal growth study on a contemporary sample of US youth to examine the relationship between peak height velocity (PHV) and Tanner staging. We observed a substantial variability in the timing of PHV across Tanner stages, which is an important consideration for clinicians when assessing growth. PMID: 26831559 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism.
In conclusion, we strongly believe that A5T alteration in the TPO gene is actually pathogenic and suggest that it should be classified as a mutation. PMID: 26831560 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T). Combination of bicalutamide+anastrozole was ineffective in slowing pubertal progression and bone age. Short-term results were better with ketoconazole. PMID: 26831561 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.
Authors: Alikaşifoğlu A, Vurallı D, Hiort O, Gönç N, Özön A, Kandemir N Abstract 17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17β-HSD3 deficiency who p...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 4, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Endocrinologic Consequences of Pediatric Posterior Fossa Tumours.
Authors: Bereket A Abstract Intracranial tumors are the second most frequent malignancies in children and posterior fossa is a common location for these neoplasias during childhood. Recent advances in surgical techniques, radiotherapy and chemotherapy resulted in dramatic increase in the survival rates of these children, however they are still source of a significant morbidity and mortality. Endocrinological complications and late sequelae of childhood posterior fossa tumours are common among the survivors of these tumours and include growth retardation, hypothyroidism, pubertal disorders, gonadal dysfunction and o...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 20, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice.
CONCLUSION: The incidence of pathology was very low in children referred for tall stature, and few children were potential candidates for adult height reduction. We propose a simple diagnostic algorithm for clinical practice. PMID: 26777036 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 20, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Low-Grade Inflammation and Increased Arterial Stiffness in Chinese Youth and Adolescents with Newly-Diagnosed Type 2 Diabetes Mellitus.
Authors: Li X, Deng YP, Yang M, Wu YW, Sun SX, Sun JZ Abstract OBJECTIVE: To investigate the relationship between low-grade inflammation (LI) and increased arterial stiffness in Chinese youth and adolescents with newly-diagnosed type 2 diabetes mellitus (T2DM). METHODS: Ninety-eight subjects aged 10 to 24 years with newly-diagnosed T2DM were investigated for findings of general inflammation. Anthropometric measurements were taken. Data related to arterial stiffness [brachial artery distensibility (Branch D), augmentation index (AIx), carotid-femoral pulse wave velocity (CF-PWV)] were collected. The subjects wer...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 20, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Neutrophil Gelatinase-Associated Lipocalin as an Early Sign of Diabetic Kidney Injury in Children.
CONCLUSION: Urine NGAL level increases in the very early phase of T1DM before microalbuminuria develops. The patients with T1DM should be considered to have diabetic kidney injury from the time of diagnosis on and preventive interventions need to be initiated at an early stage to preclude the progression to end-stage renal disease. PMID: 26777038 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 20, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research