Study of gene polymorphisms of glutathione s-transferase t1/m1 in egyptian children and adolescents with type 1 diabetes mellitus.
STUDY OF GENE POLYMORPHISMS OF GLUTATHIONE S-TRANSFERASE T1/M1 IN EGYPTIAN CHILDREN AND ADOLESCENTS WITH TYPE 1 DIABETES MELLITUS. J Clin Res Pediatr Endocrinol. 2016 Dec 02;: Authors: Barseem N, Elsamalehy M Abstract OBJECTIVE: To evaluate the association of glutathione S- transferase mu 1 (GST M1) and glutathione S- transferase theta 1 (GST T1) polymorphisms with the development of T1DM and disease-related risk factors. METHODS: Sixty-four diabetic children and 41 controls were enrolled and subjected to fasting glucose, serum creatinine, lipid profile, HbA1c and evaluation of GST T1 and M1 geneti...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 3, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Role of Versican and ADAMTS-1 in Polycystic Ovary Syndrome.
Conclusion: Serum versican levels were significantly decreased in patients with PCOS. This suggests a possible role of versican in ovulatory dysfunction and in the pathogenesis of PCOS. PMID: 27908842 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 3, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Response to the anastrozole treatment in a case with peutz-jeghers syndrome who was detected to have large cell calcifying sertoli cell tumor and developed pre-pubertal gynecomastia.
RESPONSE TO THE ANASTROZOLE TREATMENT IN A CASE WITH PEUTZ-JEGHERS SYNDROME WHO WAS DETECTED TO HAVE LARGE CELL CALCIFYING SERTOLI CELL TUMOR AND DEVELOPED PRE-PUBERTAL GYNECOMASTIA. J Clin Res Pediatr Endocrinol. 2016 Nov 22;: Authors: Koç Yekedüz M, Şıklar Z, Burgu B, Kuloğlu Z, Kocaay P, Çamtosun E, İsakoca M, Kansu A, Soygür T, Berberoğlu M Abstract Peutz-Jeghers Syndrome (PJS) is inherited as an autosomal dominant trait which is characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large Cell Cal...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 24, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Is menarcheal age associated with the risk of Type2 diabetes?
CONCLUSION: Results showed early menarche to be a potential risk factor for type 2 diabetes and pre-diabetes. PMID: 27840328 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 16, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Congenital hypothyroidism and bone remodeling cycle.
CONCLUSION: We did not detect an increase in bone resorption in patients with congenital hypothyroidism, despite long-term treatment with LT4. Our results suggest that, with the effective vitamin D and thyroxin replacement, congenital hypothyroidism is not a deleterious factor for bone turnover. PMID: 27840329 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 16, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Uniparental isodisomy of chromosome 1 unmasking an autosomal recessive 3-beta hydroxysteroid dehydrogenase type II related congenital adrenal hyperplasia.
CONCLUSION: We provide evidence of the existence of an uncommon mechanism for HSD3B2 gene related CAH arising from uniparental isodisomy of chromosome 1. PMID: 27796263 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A rare cause of short stature: patient with 3m syndrome revealed a novel mutation in obsl1 gene.
A RARE CAUSE OF SHORT STATURE: PATIENT WITH 3M SYNDROME REVEALED A NOVEL MUTATION IN OBSL1 GENE. J Clin Res Pediatr Endocrinol. 2016 Oct 31;: Authors: Keskin M, Muratoğlu Şahin N, Kurnaz E, Bayramoğlu E, Şavas Erdeve S, Aycan Z, Çetinkaya S Abstract The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A 16 months old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with a birth length of 42 cm and no...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The effectiveness of cinacalcet as an adjunctive therapy for hereditary 1-25 dihydroxyvitamin -D3 resistant rickets.
Authors: Akıncı A, Dündar İ, Kıvılcım M Abstract High doses of oral calcium or long-term calcium infusions are recommended to correct the hypocalcemia and secondary hyperparathyroidism in patients with hereditary 1-25 dihydroxyvitamin D3 resistant rickets (HVDRR). Preliminary studies revealed that calcimimetics may be safe and effective therapeutic choise in children with secondary hyperparathyroidism. Our aim was to observe the efficacy of cinacalcet on the normalization of secondary hyperparathroidism and hypophosphatemia in two siblings with VDRR who did not respond to traditional therapy regimes. ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Neck circumference to assess obesity in preschool children as a predictor.
CONCLUSION: NC may be useful to define obesity in preschool children. Since ethnic and various other factors may lead differences to produce local data can provide additional information. PMID: 27660068 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 24, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Effect of cytokine signaling 3 gene polymorphisms in childhood obesity.
CONCLUSION: The significant association of certain SOCS3 polymorphisms with obesity parameters in both metabolic syndrome and metabolic syndrome related insulin resistance, hypertension, and fatty liver suggest that polymorphisms in this gene may play a role in the pathogenesis of metabolic syndrome and also that they can be potentially used as a marker for attenuated or aggressive disease. PMID: 27611604 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 11, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Subclinical Hypothyroidism in Danish Lean and Obese Children and Adolescents.
Authors: Dahl M, Ohrt JD, Fonvig CE, Kloppenborg JT, Pedersen O, Hansen T, Holm JC Abstract OBJECTIVE: Thyroid abnormalities are common in obese children. The aim of the present study was to examine the prevalence of subclinical hypothyroidism (SH) and to determine how circulating thyroid hormone concentrations correlate with anthropometrics in Danish lean and obese children and adolescents. METHODS: We included 3,006 children and adolescents, aged 6-18 years, from the Registry of the Danish Childhood Obesity Biobank in this cross-sectional study. The overweight/obese group (n=1,796) consisted of study particip...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 11, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Neonatal Screening for congenital hypothyroidism in Razavi Khorasan Province, Iran.
Conclusion:Incidence rate of CH in Razavi Khorasan is 213 per 100,000 that is higher than in Fars Province and less than in Yazd Province. PMID: 27611842 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 11, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The effect of congenital and postnatal hypothyroidism on depression like behavior in juvenile rats.
CONCLUSION: Our results showed that hypothyroidism had negative effects on depression-like behavior and growth-development. Both congenital and postnatal hypothyroidism increase immobility time in JFST. New studies are required in order to understand the differing results on depression-like behavior between congenital and postnatal hypothyroidism. PMID: 27611926 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 11, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy.
CONCLUSION: All of our patients exhibited characteristic features of CGL due to mutations in the BSCL2 gene. PMID: 27612026 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 11, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Association between endocrinologic diseases and serous otitis media in children.
Conclusion:Results in our study reveal that there may be a tendency towards the occurrence of OME in pediatric endocrinological diseases. PMID: 27612192 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 11, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Vitamin D Deficiency in Pediatric Fracture Patients: prevalence, risk factors, and vitamin D supplementation.
This study aimed to determine the prevalence of vitamin D deficiency in a pediatric fracture population and to identify risk factors for deficiency. METHODS: In this cross-sectional study all pediatric patients (
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 24, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Stosstherapy in nutritional rickets: an insight into the safety and efficacy of treatment.
CONCLUSION: Stosstherapy is a safe, cheap and effective method of treating nutritional rickets. Biochemical tests at initial presentation followed by Vitamin D assay at 6 weeks and calcium, phosphate and ALP assay at 6 months is recommended. For regular monitoring, only ALP assay is recommended, provided one abstains from repeat injection of Vitamin-D based on high ALP levels. PMID: 27550890 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 24, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Comparison of updated weight and height percentiles with the previous references produced three years ago in 6-17 year old children in kayseri, turkey.
CONCLUSION: This study provides updated weight and height references in Kayseri, Turkish school children aged between 6-to-17 years. Additionally our results provide the opportunity of performing short-term change. We may conclude that significant changes in height as well as weight references are probable. PMID: 27507256 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 13, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Lower plasma ghrelin levels are found in women with diabetes-complicated pregnancies.
Authors: Gómez-Díaz RA, Gómez-Medina MP, Ramírez-Soriano E, López-Robles L, Aguilar-Salinas CA, Saucedo R, Zarate A, Valladares-Salgado A, Wacher NH Abstract OBJECTIVE: To evaluate the associations of glycemic control and gestational age with ghrelin and proinsulin levels in neonates' umbilical cord blood and mothers' peripheral blood. METHODS: This is a cross-sectional comparative study of twenty-four pregnant women with gestational diabetes (GD), 18 with type 2 diabetes (T2D), and 36 without diabetes, as well as their neonates. Levels of proinsulin, ghrelin, and glycated hem...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 3, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Prevalence of Vitamin D Deficiency and Calcium Homeostasis in Saudi Children and Adolescents.
CONCLUSION: We found high prevalence of VDD and VDI in children and adolescents with significantly higher prevalence in girls. These findings necessitate the set-up of a national program for vitamin D supplementation and health education for this vulnerable group. PMID: 27476528 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 3, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Testicular Adrenal Rest Tumor In Brothers With Novel Mutation In 3-Beta Hydroxysteroid Dehydrogenase -2 Gene.
CONCLUSION: These patients were the first known cases of TART with novel mutation in the HSD3β 2 gene was detected during childhood. High dose hydrocortisone treatment is more reliable for TART in children. PMID: 27476613 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 3, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Pseudohypoparathyroidism Type IA Subclinical Hypothyroidism and Rapid Weight Gain weight As Early Clinical Signs. A clinical Study of 10 Cases.
Conclusion: Based on our results, PHP type IA should be considered in toddlers presenting with round face, rapid weight gain, subcutaneous ossifications and subclinical hypothyroidism. In older children moderate mental retardation, brachydactyly, afebrile seizures, short stature and TSH resistance are the most suggestive features. PMID: 27467896 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 29, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T > A).
Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T>A). J Clin Res Pediatr Endocrinol. 2016 Jul 27; Authors: Çelmeli G, Türkkahraman D, Çürek Y, Houghton J, Akçurin S, Bircan İ Abstract Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The main clinical features include diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA) and deafness (D) with other variable clinical manifestations. The aim of this paper is to present three cases of WS from three unrelat...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 29, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene.
Authors: Sahin S, Hiort O, Thiele S, Evliyaoğlu O, Tüysüz B Abstract Pseudohypoparathyroidism-Ia is characterized by multihormone resistance and Albright hereditary osteodystrophy phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of the patient were evaluated between 6.5 years and 14.5 years of age. The girl had short stature, brachydactyly and subcutaneous heterotopic ossification. Serum calcium and phosphorus levels were normal, but parathyroid hormone levels were high. Based on the typical clinical findings of AHO phenotype and biochemical findings, she ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 21, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Role of Osteopontin in the Pathogenesis and Complication of Type 1 Diabetes Mellitus in Children and Adolescents.
Authors: Talat M, Sherief L, El-Saadany H, Ahmed A, Salah R, Sakr M Abstract OBJECTIVE: To investigate the levels of serum osteopontin in pediatric patients with type1 diabetes mellitus (T1DM) and to explored if it has a role in the prediction of diabetes complications. METHODS: This was a case-control study conducted at endocrinology unit, children's Hospital, Zagazig University, Egypt, from October 2014 to December 2015. Sixty patients with T1DM and 60 healthy subjects were enrolled. All the children were subjected to detailed medical history; full clinical examination, ophthalmoscopy ; laboratory estimation ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The first case of vitamin D dependent rickets type 1A from Uzbek population with a novel mutation.
CONCLUSION: VDDR-1A is a rare disorder but must be considered even in countries where vitamin D deficiency is still common. PMID: 27353739 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Development and validation of Pediatric Endocrine Knowledge Assessment Questionnaire (PEKAQ): Impact of PEKAQ intervention study.
Authors: Gupta N, Zidan M, Moltz K, Adhikari A, Buggs-Saxton C, Zidan H, Abushanab D, Lteif A, Edwin C Abstract OBJECTIVE: While there is a general agreement that patient education is essential for compliance, no objective tools exist to assess knowledge of children and parents of children with endocrine disorders. We aimed to design and validate a Pediatric Endocrine Knowledge Assessment Questionnaire (PEKAQ) for congenital hypothyroidism, Hashimoto's thyroiditis, isolated growth hormone deficiency, Graves' disease and congenital adrenal hyperplasia. We evaluated baseline knowledge of children and parents of child...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Critical Appraisal of Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome Patients in Turkey.
Authors: Yavaş Abalı Z, Darendeliler F, Neyzi O Abstract Early detection of abnormal growth, identification of the underlying cause and appropriate treatment of the medical condition is an important issue for children with short stature. Growth hormone (GH) therapy is widely used in GH deficient children and also in non-GH deficient short stature cases who have findings conforming to certain indications. Efficacy of GH therapy has been shown in a multitude of short and long term studies. Age at onset of GH therapy is the most important factor for a successful treatment outcome. Optimal dosing is also essential. T...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The 13C-glucose breath test for insulin resistance assessment in adolescents: comparison with fasting and post-glucose stimulus surrogate markers of insulin resistance.
CONCLUSION: The 13C-GBT is a practical and non-invasive method to screen for IR in adolescents with reasonable sensitivity and specificity. PMID: 27354200 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Non-classical congenital adrenal hyperplasia in childhood.
NON-CLASSICAL CONGENITAL ADRENAL HYPERPLASIA IN CHILDHOOD. J Clin Res Pediatr Endocrinol. 2016 Jun 29; Authors: Kurtoğlu S, Hatipoğlu N Abstract Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders resulting from the deficiency of enzymatic activity for the synthesis of cortisol and mineralocorticoid. There are different clinical forms of CAH regarding to enzymatic activity. This disease is classified in 2 main groups as classical and non classical. In classical type, the most severe form comprises both salt-wasting and simple virilising forms. In the non classical ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 1, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Influence of obesity on luteinizing hormone secretion during gonadotropin-releasing hormone stimulation tests in girls with central precocious puberty.
CONCLUSION: Increased BMI is associated with slightly lower peak stimulated LH levels at early pubertal stages (Tanner stages 2 and 3), but BMI was not associated with LH secretion in Tanner stage 4 girls with CPP. PMID: 27215137 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 26, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Breast milk iodine concentrations, iodine status and thyroid function of breastfed infants aged 2-4 months and their mothers residing in a South African township.
CONCLUSION: Our results suggest that the salt fortification program in South Africa provides adequate iodine to lactating women, and indirectly to their infants via breast milk. However, monitoring of salt iodine content of the mandatory salt iodization program in South Africa is important to avoid "over-iodization" of salt. PMID: 27217155 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 26, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Association between Common genetic variants of PCOS risk in a Chinese Han population.
CONCLUSION: Our results suggested that SNPs rs705702 in gene RAB5B/SUOX was associated with PCOS in Han Chinese women. PMID: 27217259 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 26, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The p.(Glu809Lys) mutation in the WFS1 gene is associated with the occurrence of the Wolfram-like syndrome-WFSL: a case report.
CONCLUSIONS: The mutation p.(Glu809Lys) in the WFS1 gene is associated with the occurrence of the Wolfram-like syndrome-WFSL. PMID: 27217304 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 26, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Association between Serum 25-Hydroxy Vitamin D Level and Urine Cathelicidin in Children with a Urinary Tract Infection.
CONCLUSION: The children with vitamin D insufficiency may not increase of the urine cathelicidin level during UTI with Escherichia coli. There is a need of prospective studies in order to prove a beneficial effect of vitamin D supplementation for the restoration of cathelicidin stimulation and finally the prevention of UTI recurrence. PMID: 27180947 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A NOVEL HOMOZYGOUS MUTATION IN THE KCNJ11 GENE p.F315I OF A NEONATE WITH CONGENITAL HYPERINSULINISM AND SUCCESFUL MANAGEMENT BY SIROLIMUS.
CONCLUSION: We present a novel homozygous p.F315I mutation in the KCNJ11 gene leading to diazoxide-unresponsive CHI in a neonate. This case illustrates challenges associated with the diagnosis and management of CHI, as well as successful therapy with sirolimus. PMID: 27181099 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Current Status of Childhood Hyperinsulinaemic Hypoglycaemia in Turkey.
Authors: Şıklar Z, Berberoğlu M Abstract Congenital Hyperinsulinism (CHI) is a rare disease and characterized by dysregulated insulin secretion from pancreatic β-cells. Recurrent hypoglycemia can lead to neurological insult and permenant brain injury. Recently, there are important advances in understanding the genetic mechanisms, histological characteristics, imaging and surgical techniques of Congenital Hyperinsulinaemic Hypoglycemia that could reflect to improvement of the clinical care of infants with this disorder. In Turkey, there is high rate of consanguinity, and the incidence of CHI expected to be h...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Crouzono-dermo-skeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.
Authors: Gürbüz F, Ceylaner S, Topaloğlu AK, Yüksel B PMID: 27181494 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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