Publications by authors named "Veysel Bas"

53 Publications

Cushing syndrome induced by long term use of corticosteroids in the management of atopic dermatitis.

Pediatr Endocrinol Diabetes Metab 2020 ;26(4):216-219

General Pediatrics, Evliya Çelebi Eğitim Araştırma Hastanesi, Turkey.

Corticosteroid-containing creams, pomades and ointments are frequently prescribed for the treatment of atopic dermatitis by allergologists and immunologists, dermatologists and many other physicians. This case is about a 1-month old infant who acquired iatrogenic Cushing syndrome after being applied diflucortolone valerate, a strong corticosteroid, ointment 3 to 4 times a day over the course of 4 months after being prescribed by a primary care physician.
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http://dx.doi.org/10.5114/pedm.2020.100803DOI Listing
January 2020

Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome.

Turk J Pediatr 2018 ;60(2):210-215

Departments of Pediatric Nephrology, Kayseri Training and Research Hospital, Kayseri, Turkey.

Baştuğ F, Nalçacıoğlu H, Baş VN, Tekatlı-Çelik B, Çetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215. Infantile hypercalcemia has been reported in 15% of infants and children with Williams-Beuren syndrome (WBS) and has generally mild clinical symptoms. However, the need for pamidronate treatment in a few infants with severe hypercalcemia associated with WBS has been reported in literature. Many disorders, such as primary hyperoxaluria, associated with nephrocalcinosis can lead to renal failure, but there are only a few reports in infants with WBS who have decreased renal function and nephrocalsinosis. We present a 23-month-old girl with WBS (confirmed with fluorescent in situ hybridization probes) who presented with acute renal failure with severe symptomatic hypercalcemia and nephrocalcinosis, which responded to two infusions of pamidronate.
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http://dx.doi.org/10.24953/turkjped.2018.02.017DOI Listing
May 2019

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.

J Clin Endocrinol Metab 2017 09;102(9):3085-3090

University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom.

Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (e.g., dietary iodine) and oligogenic modifiers (e.g., variants in the homologous reduced form of NAD phosphate-oxidase DUOX1). However, loss-of-function mutations in DUOX1 have not hitherto been described, and its role in thyroid biology remains undefined.

Case Description: We previously described a Proband and her brother (P1, P2) with unusually severe CH associated with a DUOX2 homozygous nonsense mutation (p.R434*); P1, P2: thyrotropin >100 µU/mL [reference range (RR) 0.5 to 6.3]; and P1: free T4 (FT4) <0.09 ng/dL (RR 0.9 to 2.3). Subsequent studies have revealed a homozygous DUOX1 mutation (c.1823-1G>C) resulting in aberrant splicing and a protein truncation (p.Val607Aspfs*43), which segregates with CH in this kindred.

Conclusion: This is a report of digenic mutations in DUOX1 and DUOX2 in association with CH, and we hypothesize that the inability of DUOX1 to compensate for DUOX2 deficiency in this kindred may underlie the severe CH phenotype. Our studies provide evidence for a digenic basis for CH and support the notion that oligogenicity as well as environmental modulators may underlie phenotypic variability in genetically ascertained CH.
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http://dx.doi.org/10.1210/jc.2017-00529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587079PMC
September 2017

Clinical Toxicity of Acute Overdoses With L-Thyroxin in Children.

Pediatr Emerg Care 2019 Nov;35(11):787-790

Department of Pediatric Endocrinology, Dr Sami Ulus Children Training and Research Hospital, Ankara, Turkey.

Objectives: L-Thyroxine ingestion is rarely seen in children; here, we report our experience of it. This study describes the clinical characteristics and laboratory findings of acute L-thyroxine ingestion in children.

Methods: This retrospective study enrolled patients treated for L-thyroxine ingestion at Kayseri Teaching Hospital between September 2013 and September 2016. Clinical characteristics and laboratory findings are described. Ethical approval was not obtained because the study was retrospective.

Results: The incidence of L-thyroxine ingestion was 0.07% to 1.2% per year. There were 14 patients. Twelve patients were asymptomatic, but 2 (14.2%) exhibited tachycardia and hypertension. Thyroid hormone levels were elevated in 3 patients (21.4%). Eleven patients did not require medical treatment (78.4%); 3 did. No serious complication or death was observed.

Conclusions: Acute ingestion has a benign course. Serious complications are uncommon but may appear several hours or days after ingestion; therefore, patients with L-thyroxine ingestion should be followed closely for 2 weeks.
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http://dx.doi.org/10.1097/PEC.0000000000001141DOI Listing
November 2019

Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism.

J Pediatr Endocrinol Metab 2017 May;30(5):557-560

Department of Pediatrics, Kayseri Education and Research Hospital, Kayseri.

Background: Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate heart functions with congenital hypothroidism (CH) in newborns and changes after levothyroxine substitution therapy, measured with tissue Doppler echocardiography and conventional echocardiography.

Methods: The study included 30 neonates with CH and 34 healthy controls. Echocardiography were performed at baseline, 2nd week and 6th month of therapy.

Results: Heart systolic function was normal. Mitral E velocities and mitral E/A ratios were significantly lower in patients at baseline. Tei indices were significantly higher in patients and a significant negative correlation was detected between free thyroxine levels and Tei indices.When early and late post-treatment echocardiography findings are compared, a non-significant difference was detected.

Conclusions: Neonates with CH may exhibit systolic and diastolic heart dysfunction, which can be reversed by early L-T4 substitution treatment. The Tei index index should be measured in addition to conventional echocardiography.
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http://dx.doi.org/10.1515/jpem-2016-0393DOI Listing
May 2017

Bone mineral density and bone metabolic markers' status in children with neurofibromatosis type 1.

J Pediatr Endocrinol Metab 2017 Feb;30(2):175-180

Background: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1.

Methods: The study population included 33 pediatric NF1 patients (20 males and 13 females). Bone metabolic markers, such as total calcium, phosphorus, magnesium, alkaline phosphatase, parathyroid hormone, and 25-OH vitamin D, the urinary calcium/creatine ratio were measured. In addition, BMD was measured at both the lumbar spine (LS) and the femoral neck in all the patients.

Results: All the patients had a low 25-OH vitamin D level, but it was significantly lower in the females than in the males (p<0.009). Overall, 18.2% of the patients had skeletal abnormalities. The lumbar Z-score was ≤2 in 21.2% of the patients, whereas the femoral neck Z-score was ≤2 in 9.1%. The urinary calcium/creatine ratio was significantly higher in the female than in the male patients (p<0.027). In all, six patients had skeletal abnormalities.

Conclusions: It is widely known that bone mineral metabolism markers and BMD are significantly affected in NF1 patients; however, the present study did not identify any effective parameters that could be used to predict skeletal abnormalities, or diagnose early osteoporosis and osteopenia in pediatric NF1 patients.
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http://dx.doi.org/10.1515/jpem-2016-0092DOI Listing
February 2017

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

J Clin Endocrinol Metab 2016 08 4;101(8):2945-54. Epub 2016 May 4.

Division of Pediatric Endocrinology (K.D.), Faculty of Medicine, Dokuz Eylül University, 35340, Balcova, Izmir, Turkey; Division of Pediatric Endocrinology (B.Ö.), Dr Behçet Uz Children's Hospital, 35210 İzmir, Turkey; Department of Internal Medicine (A.L.M.v.G., M.E.M., W.E.V., R.P.P., T.J.V.), Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands; Division of Pediatric Endocrinology (M.B., G.Ç.), Tepecik Education and Research Hospital, 35170, İzmir, Turkey; Department of Psychiatry (Y.A.), Hacettepe University, 06532 Ankara, Turkey; Division of Pediatric Endocrinology (V.N.B.), Eskisehir State Hospital, 26060, Eskisehir, Turkey; and Division of Pediatric Endocrinology (G.Ç., B.D.), Katip Çelebi University, 35620 İzmir, Turkey.

Context: Recently several patients with resistance to thyroid hormone (RTH)-α due to T3 receptor-α (TRα) mutations were identified. The phenotype of these patients consists of varying degrees of growth impairment, delayed bone, mental and motor development, constipation, macrocephaly, and near-normal thyroid function tests.

Objective: The objective of the study was to describe the clinical phenotype of three new families with RTHα and thereby gain more detailed knowledge on this novel syndrome.

Design, Setting, And Participants: RTHα was suspected in three index patients from different families. Detailed clinical and biochemical assessment and imaging and genetic analyses were performed in the patients and their relatives. In addition, functional consequences of TRα mutations were investigated in vitro.

Results: We studied 22 individuals from three families and identified 10 patients with heterozygous TRα mutations: C380fs387X, R384H, and A263S, respectively. The frame-shift mutation completely inactivated TRα, whereas the missense mutations produced milder defects. These mutations were associated with decreasing severity of the clinical phenotype: the patient in family 1 showed severe defects in growth, mental, and motor development, whereas the seven patients in family 3 had only mild clinical features. The most frequent abnormalities were anemia, constipation, and a delay in at least one of the developmental milestones. Serum free T3 ranged from high-normal to high and serum free T4 and rT3 from normal to low. TSH levels were normal in all patients.

Conclusions: This large case series underlines the variation in the clinical phenotype of RTHα patients. RTHα should be suspected in subjects when even mild clinical and laboratory features of hypothyroidism are present along with high/high-normal free T3, low/normal free T4, and normal TSH.
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http://dx.doi.org/10.1210/jc.2016-1404DOI Listing
August 2016

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.

J Clin Res Pediatr Endocrinol 2015 Sep;7(3):183-91

Gülhane Military Medicine Academy, Department of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 304 18 98 E-mail:

Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS.

Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated.

Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others.

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.
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http://dx.doi.org/10.4274/jcrpe.2023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677552PMC
September 2015

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

Am J Med Genet A 2016 Apr 20;170A(4):942-8. Epub 2016 Jan 20.

Department of Pediatric Endocrinology, Istanbul University Istanbul Faculty of Medicine, Turkey.

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.
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http://dx.doi.org/10.1002/ajmg.a.37498DOI Listing
April 2016

Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.

J Pediatr Endocrinol Metab 2016 Apr;29(4):487-96

Background: Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11 MODY genes in Turkish children by using targeted next generation sequencing.

Methods: A panel of 11 MODY genes were screened in 43 children with MODY diagnosed by clinical criterias. Studies of index cases was done with MISEQ-ILLUMINA, and family screenings and confirmation studies of mutations was done by Sanger sequencing.

Results: We identified 28 (65%) point mutations among 43 patients. Eighteen patients have GCK mutations, four have HNF1A, one has HNF4A, one has HNF1B, two have NEUROD1, one has PDX1 gene variations and one patient has both HNF1A and HNF4A heterozygote mutations.

Conclusions: This is the first study including molecular studies of 11 MODY genes in Turkish children. GCK is the most frequent type of MODY in our study population. Very high frequency of novel mutations (42%) in our study population, supports that in heterogenous disorders like MODY sequence analysis provides rapid, cost effective and accurate genetic diagnosis.
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http://dx.doi.org/10.1515/jpem-2015-0039DOI Listing
April 2016

Evaluating the Efficacy of Treatment with a GnRH Analogue in Patients with Central Precocious Puberty.

Int J Endocrinol 2015 13;2015:247386. Epub 2015 Oct 13.

Pediatric Endocrinology, Dr. Sami Ulus Women Health, Children's Training and Research Hospital, 06080 Ankara, Turkey.

Objective. GnRH analogues (GnRHa) are used in the treatment of central precocious puberty (CPP). The purpose of this study was to evaluate the efficacy of treatment with a GnRHa (leuprolide acetate) in patients with CPP. Subjects and Methods. A total of 62 female child patients who had been diagnosed with CPP, rapidly progressive precocious puberty (RP-PP), or advanced puberty (AP) and started on GnRHa treatment (leuprolide acetate, Lucrin depot, 3.75 mg once every 28 days) were included in the study. The efficacy of treatment was evaluated with anthropometric data obtained, progression of pubertal symptoms observed, as well as GnRHa tests, and, when necessary, intravenous GnRH tests carried out in physical examinations that were performed once every 3 months. Results. In the current study, treatment of early/advanced puberty at a dose of 3.75 mg once every 28 days resulted in the suppression of the HHG axis in 85.5% of the patients. Conclusion. The findings of this study revealed that a high starting dose of leuprolide acetate may not be necessary in every patient for the treatment of CPP. Starting at a dose of 3.75 mg once every 28 days and increasing it with regard to findings in follow-ups would be a better approach.
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http://dx.doi.org/10.1155/2015/247386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621357PMC
November 2015

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Eur J Med Genet 2015 Dec 27;58(12):689-94. Epub 2015 Oct 27.

Ege University Faculty of Medicine, Medical Genetics, Izmir, Turkey; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Izmir, Turkey.

Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning difficulties. To date, mutations in 21 different genes have been described as being responsible for BBS. Recently sequential gene sequencing has been replaced by next generation sequencing (NGS) applications. In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1). A genetic diagnosis was achieved in 13 patients (86.6%) and involved 9 novel and 3 previously described pathogenic variants in 6 of 17 BBS causing genes. BBS10 and BBS1 were the most commonly involved genes with frequencies of 31% and 23% respectively. Three of the 13 patients had an affected sibling. All affected siblings were found to be homozygous for the mutation detected in the proband. No evidence of triallelic inheritance was detected. Although limited association between certain genes and phenotypic features has been observed in this study, it is considered that additional studies are needed to better characterize the genotype-phenotype correlation of BBS. Our results demonstrate that NGS panels are feasible and effective method for providing high diagnostic yields in the diseases caused by multiple genes such as BBS.
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http://dx.doi.org/10.1016/j.ejmg.2015.10.011DOI Listing
December 2015

Hypopituitarism and Legg-Calve-Perthes disease related to difficult delivery.

Korean J Pediatr 2015 Jul 22;58(7):270-3. Epub 2015 Jul 22.

Department of Pediatrics, Kayseri Training and Research Hospital, Kayseri, Turkey.

Legg-Calve-Perthes (LCP) disease is characterized by idiopathic avascular osteonecrosis of the epiphysis of the femur head. The main factor that plays a role in the etiology of the disease is decreased blood flow to the epiphysis. Many predisposing factors have been suggested in the etiology of LCP disease, and most have varying degrees of effects. Here we present the case of a boy aged 4 years and 10 months with complaints of short stature and a diagnosis of multiple hypophyseal hormone deficiency, in whom LCP disease and difficult birth-related pituitary stalk interruption syndrome were identified by anamnesis. The present case revealed that LCP disease and hypophyseal hormone deficiency could be secondary to difficult birth and that LCP disease could be secondary to insulin-like growth factor 1 deficiency. Additionally, to the best of our knowledge there is no published case on the relation between LCP disease and insulin-like growth factor 1 deficiency. Therefore, we believe that this case is worthy of presentation.
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http://dx.doi.org/10.3345/kjp.2015.58.7.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543188PMC
July 2015

Investigation of autoimmune diseases accompanying Hashimoto's thyroiditis in children and adolescents and evaluation of cardiac signs.

J Pediatr Endocrinol Metab 2015 Jul;28(7-8):767-71

Objective: In the present study, it was aimed to investigate the concomitance of additional cardiac problems, mainly mitral valve prolapse, in adolescents and pediatric patients with Hashimoto's thyroiditis, by screening autoimmune markers.

Materials And Methods: Fifty-seven euthyroid patients, who applied to the Pediatric Endocrinology clinic at our institution with marked symptoms of hypothyroidism at the time of diagnosis, and were diagnosed and treated for Hashimoto's thyroiditis, were included in the present study. All patients were evaluated by performing non-organ specific autoantibodies which could be tested at our institution, thyroid ultrasonography, two-dimensional echocardiography, and 24-h holter monitorization.

Results: Of the 57 cases with Hashimoto's thyroiditis, 48 (84.2%) were female, and nine (15.8%) were male. In the echocardiographic evaluation, mitral valve problems were detected in 10 (17.5%) of all cases; mitral valve prolapse was diagnosed in eight (seven females and one male) cases, and mitral insufficiency was diagnosed in two female cases. First-degree atrioventricular block was observed in only two patients during 24-h holter monitorization. Different non-organ specific autoantibody positivity was distributed as antinuclear antibody in 15 (26.3%) cases, anticardiolipin IgG in two cases, anticardiolipin IgM in three cases, tissue transglutaminase IgA in one, glutamic acid decarboxylase in one, anti-insulin antibody in four cases, antiphospholipid IgG in one, and antiphospholipid IgM in one case.

Conclusion: It should be underlined that patients with Hashimoto's thyroiditis should to be followed up closely for mitral valve prolapse and accompanying autoimmune diseases.
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http://dx.doi.org/10.1515/jpem-2014-0373DOI Listing
July 2015

Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty.

J Pediatr Endocrinol Metab 2015 Sep;28(9-10):1145-51

Introduction And Purpose: This study aims to investigate the effect of Gonadotropin-releasing hormone analogues (GnRHa) treatment on anterior pituitary hormones in female children with central precocious puberty (CPP).

Subjects And Method: There were 62 female children who had been diagnosed with CPP and received GnRHa (Leuprolide acetate, 3.75 mg intramuscular/subcutaneous/28 days) included in the study. All subjects were clinically evaluated prior to treatment and every 3 months during treatment with serum LH, FSH, ACTH, TSH, PRL as pituitary hormones, and the end hormones such as plasma E2, cortisol, fT3, fT4 levels were measured. IGF-1 and IGFBP-3 levels were measured, and SDS was evaluated according to age and gender.

Results: Prolactin levels were higher during GnRHa treatment compared to pre-treatment values although the increase was statistically significant only at month 3. In addition, while 2 (3.2%) of the patients had hyperprolactinemia before treatment, 11 (17.7%) patients developed hyperprolactinemia at different time points during treatment.

Conclusion: This study concluded that GnRHa treatment resulted in hyperprolactinemia and had no significant effect other pituitary hormones.
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http://dx.doi.org/10.1515/jpem-2014-0222DOI Listing
September 2015

Turner syndrome and associated problems in Turkish children: a multicenter study.

J Clin Res Pediatr Endocrinol 2015 Mar;7(1):27-36

Gülhane Military Medicine Academy, Department of Pediatric Endocrinology, Ankara, Turkey. E-mail:

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.

Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.

Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.

Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.
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http://dx.doi.org/10.4274/jcrpe.1771DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439889PMC
March 2015

Effect of obesity on left ventricular longitudinal myocardial strain by speckle tracking echocardiography in children and adolescents.

Balkan Med J 2015 Jan 1;32(1):56-63. Epub 2015 Jan 1.

Department of Pediatric Endocrinology, Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.

Background: Impaired subclinical ventricular function may contribute to the risk of cardiovascular disease in obesity.

Aims: The aim of this study was to determine the influence of obesity on left ventricular (LV) longitudinal myocardial function in normotensive obese children using two-dimensional (2D) speckle tracking echocardiography (STE).

Study Design: Case-control study.

Methods: Sixty normotensive obese children aged 10-16 years (mean age, 13.9±2.3 years) were compared with 50 normal-weight controls. Obese participants had a body mass index (BMI)≥95(th) percentile. Regional strain/strain rate (SR) values were compared with left ventricular (LV) parameters. The correlation was studied by linear regression analysis.

Results: Obese subjects exhibited a significantly higher LV end-diastolic diameter, left atrium/aortic diameter ratio, and LV mass/index when compared to controls (p<0.001). Left ventricular ejection fraction and regional systolic myocardial velocities were similar in the obese and control groups. By 2D STE, regional strain of both the septal wall (average strain: -16.0±3.9% vs -21.9±2.4%, p<0.001) and lateral wall (average strain: -15.6±2.3% vs -22.9±3.5%, p<0.001); regional SR of both the septal wall (average SRsys: -0.7±0.22 s(-1) vs -1.3±0.32 s(-1), p<0.001) and lateral wall (average SRsys: -0.67±0.19 s(-1) vs -1.33±0.31 s(-1), p<0.001); regional SRE/A of both the septal wall (average SRE/A: 1.8±0.83 vs. 2.2±0.91, p: 0.004) and lateral wall (average SRE/A: 1.4±0.43 vs. 2.4±1.21, p<0.001); and global strain (-14.6±7.34% vs -20.9±3.24%, p<0.001) were lower in the obese group compared with the controls. These strain imaging parameters appear to be related to the severity of obesity and can contribute to increased BMI. Left ventricular mass was found to be correlated with a decrease in global LV strain.

Conclusion: Our study showed that childhood obesity is associated with an alteration in the longitudinal LV function. Segmental analysis of the LV can provide subtle markers for the emergence of future obesity-related cardiac disease.
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http://dx.doi.org/10.5152/balkanmedj.2015.15136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342139PMC
January 2015

Diabetic euglycemic ketoacidosis in newly diagnosed type 1 diabetes mellitus during Ramadan fasting.

J Pediatr Endocrinol Metab 2015 Mar;28(3-4):333-5

Real euglycemic diabetic ketoacidosis [DKA; blood glucose <200 mg/dL (11.1 mmol/L)] is rare, and long-lasting starvation conditions due to intervening diseases in type 1 diabetes mellitus patients may also cause it. Euglycemic DKA is also reported in insulin-dependent diabetics with depression, alcoholics, glycogen storage diseases, and chronic liver disease apart from pregnant cases. This case report is presented to emphasize the importance of evaluation of acid-base state, urine glucose, and ketone values at the application in all newly diagnosed type 1 diabetic patients with normal glucose levels by defining euglycemic DKA that resulted from long-lasting starvation during Ramadan fasting in a newly diagnosed 14-year-old male patient.
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http://dx.doi.org/10.1515/jpem-2013-0497DOI Listing
March 2015

An uncommon cause of hypoglycemia: insulin autoimmune syndrome.

Horm Res Paediatr 2014 23;82(4):278-82. Epub 2014 Jul 23.

Pediatric Endocrinology Division, Dr. Sami Ulus Training and Research Children's Hospital, Ankara, Turkey.

Background: Insulin autoimmune syndrome (IAS) is a condition characterized by hypoglycemia associated with the presence of autoantibodies to insulin in patients who have not been injected with insulin.

Case Report: A female patient (aged 16 years and 3 months) presented with the complaint of being overweight. Physical examination revealed a body weight of 78.2 kg (+2.6 SD) and a height of 167 cm (+0.73 SD). While the patient's fasting blood glucose level was found to be 40 mg/dl, blood ketone was negative and the serum insulin level was determined as 379 mIU/ml. The patient was diagnosed with hyperinsulinemic hypoglycemia. Abdominal ultrasound, pancreas MRI and endoscopic ultrasound were normal. The daily blood glucose profile revealed postprandial hyperglycemia and reactive hypoglycemia in addition to fasting hypoglycemia. The results of anti-insulin antibody measurements were as high as 41.8% (normal range 0-7%). A 1,600-calorie diet containing 40% carbohydrate and divided into 6 meals a day was given to the patient. Simple sugars were excluded from the diet. Hypoglycemic episodes were not observed, but during 2 years of observation, serum levels of insulin and anti-insulin antibodies remained elevated.

Conclusion: In all hyperinsulinemic hypoglycemia cases, IAS should be considered in the differential diagnosis and insulin antibody measurements should be carried out.
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http://dx.doi.org/10.1159/000362758DOI Listing
June 2015

Iatrogenic Cushing's syndrome due to overuse of topical steroid in the diaper area.

J Trop Pediatr 2014 Oct 11;60(5):404-6. Epub 2014 Jul 11.

Department of Pediatric Endocrinology, Kayseri Teaching and Research Hospital.

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http://dx.doi.org/10.1093/tropej/fmu036DOI Listing
October 2014

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.

J Pediatr Endocrinol Metab 2014 Nov;27(11-12):1101-5

Congenital hypothyroidism (CH), one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns. CH is most often caused by defects in thyroid development leading to thyroid dysgenesis. The thyroid-stimulating hormone receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with CH. In this study, we aim to determine the genetic alteration in a case with congenital hypothyroidism and heart defects coming from a consanguineous family. We utilized genetic linkage analysis and direct sequencing to achieve our aim. Our results revealed that the family showed linkage to the TSHR locus, and we detected a homozygous nonsense mutation (R609X) in the case. Apart from other cases with the same mutation, our case had accompanying cardiac malformations. Although cardiac malformations are not uncommon in sporadic congenital hypothyroidism, here, they are reported for the first time with R609X mutation in a familial case.
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http://dx.doi.org/10.1515/jpem-2014-0025DOI Listing
November 2014

Prader-Willi syndrome and growth hormone deficiency.

J Clin Res Pediatr Endocrinol 2014 ;6(2):62-7

Kayseri Training and Education Hospital, Department of Pediatric Endocrinology, Kayseri, Turkey.

Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder demonstrating great variability with changing clinical features during patient's life. It is characterized by severe hypotonia with poor sucking and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. The phenotype is most probably due to hypothalamic dysfunction which is also responsible for growth hormone (GH) and thyroid-stimulating hormone (TSH) deficiencies, central adrenal insufficiency and hypogonadism. The multidimensional problems of patients with PWS can be managed with multidisciplinary approach. Reduced GH secretion, low peak GH response to stimulation, decreased spontaneous GH secretion and low serum IGF-1 levels in PWS patients have been documented in many studies. GH therapy has multiple beneficial effects on growth and body composition, motor and mental development in PWS patients. The recommended dosage for GH is 0.5-1 mg/m2/day. GH therapy should not be started in the presence of obstructive sleep apnea syndrome, adenotonsillar hypertrophy, severe obesity and diabetes mellitus. GH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental and life-style measures.
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http://dx.doi.org/10.4274/Jcrpe.1228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141577PMC
January 2015

Evaluation of asymmetric dimethylarginine (ADMA) levels in children with growth hormone deficiency.

J Clin Res Pediatr Endocrinol 2014 ;6(1):22-7

Sami Ulus Gynecology and Obstetrics, Children Health and Diseases Training and Research Hospital, Pediatric Endocrinology Clinic, Ankara, Turkey. E-ma-il:

Objective: To investigate serum asymmetric dimethylarginine (ADMA) levels in children with isolated growth hormone deficiency (GHD) and to determine the effect of GH replacement therapy on these levels.

Methods: 31 patients diagnosed with isolated GHD and 29 age-and sex-matched healthy children were enrolled in the study. Height, weight and waist circumference were measured in all subjects. Fasting serum insulin-like growth factor-1 (IGF-1), IGF binding protein-3, glucose, insulin and lipid levels were evaluated. Serum ADMA levels were assessed using the enzyme-linked immunosorbent assay technique. The same evaluations were repeated on the 3rd and 6th months of treatment in 28 of the GHD cases.

Results: There were no significant differences in ADMA levels between the patient and control groups [0.513±0.130 (0.291-0.820) µmol/L vs. 0.573±0.199 (0.241-1.049) µmol/L]. There was a positive correlation between serum ADMA and HbA1c levels in the control group. In the GHD cases, ADMA levels negatively correlated with high-density lipoprotein levels and positively correlated with low-density lipoprotein levels. There was also a significant increase in ADMA levels in patients receiving GH therapy compared to pre-treatment levels [serum ADMA level, 1.075±0.133 (0.796-1.303) µmol/L at the 3rd month and 0.923±0.121 (0.695-1.159) µmol/L at the 6th month of treatment]. There was a negative correlation between ADMA levels and homeostasis model assessment of insulin resistance values at the 6th month evaluation. There were no relationships between ADMA levels and age, sex, or pubertal state either before or during the treatment.

Conclusion: Serum ADMA levels were found to be similar in patients with GHD and in healthy children. However, serum ADMA levels showed a significant increase in GHD patients following GH replacement therapy.
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http://dx.doi.org/10.4274/Jcrpe.1182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986735PMC
November 2014

Corneal biomechanical characteristics in children with diabetes mellitus.

Int Ophthalmol 2014 Aug 23;34(4):881-6. Epub 2014 Jan 23.

Department of Pediatric Opthalmology, Dr Sami Ulus Children's Health and Disease Training and Research Hospital, Babur Street No: 44, Altindag, Ankara, 06080, Turkey,

To compare the corneal biomechanical properties in children with type 1 diabetes mellitus (DM) and healthy children. In this cross-sectional study, the study and control groups were composed of 68 children with DM and 74 healthy children, respectively. The corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-correlated intraocular pressure (IOPg) and corneal-compensated intraocular pressure (IOPcc) were measured with the ocular response analyzer (ORA). Associations between ocular and diabetic parameters were also evaluated. There were no statistically significant differences between the two groups in age or gender distribution. The mean CH was 10.8 ± 1.5 and 10.7 ± 1.7 mmHg while the mean CRF was 10.9 ± 1.9 and 10.5 ± 1.6 mmHg in the diabetic group and control group, respectively. The mean IOPg was 15.9 ± 3.7 and 15.2 ± 3.4 mmHg, and the mean IOPcc was 15.8 ± 3.0 and 15.3 ± 3.4 mmHg in the diabetic and control group, respectively. There were no statistically significant differences between the two groups for CH, CRF, IOPg, and IOPcc measurements (independent t test, p = 0.624, p = 0.207, p = 0.263, p = 0.395, respectively). This study shows that type 1 DM does not have any effect on the corneal biomechanical parameters in childhood.
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http://dx.doi.org/10.1007/s10792-014-9899-7DOI Listing
August 2014

Diseases accompanying congenital hypothyroidism.

J Pediatr Endocrinol Metab 2014 May;27(5-6):485-9

Introduction: Extrathyroidal abnormality incidence and especially the incidence of congenital cardiac disease are increased with congenital hypothyroidism. In this present study, it is aimed to evaluate patients who were being followed up for congenital hypothyroidism for accompanying diseases, and to compare impacts of accompanying diseases on prognosis under the light of published articles in the literature.

Material And Methods: A total of 400 cases which were diagnosed with, treated and followed up for congenital hypothyroidism in our clinic were retrospectively evaluated. Cases with complaining symptoms and without any complaints, but were diagnosed with hypothyroidism as the result of screening tests were enrolled in the study.

Results: Of 400 subjects included due to congenital hypothyroidism, 186 (46.5%) were girls and 214 (53.5%) were boys. Accompanying diseases were diagnosed in 113 cases (28.2%). Accompanying diseases according to the frequency order were congenital cardiac disease (n=32, 8.0%), Down syndrome (n=25, 6.3%), inguinal hernia (n=21, 5.30%), undescended testicles (n=8, 2.0%), GH deficiency (n=4, 1.0%), and some other systemic diseases (n=23, 5.8%). In cases accompanied by congenital cardiac diseases, ventricular septal defect (n=10), atrial septal defect (n=9), pulmonary stenosis (n=7), patent ductus arteriosis (n=7), and aortic coarctation (n=3) were detected.

Conclusion: In this present study, it was defined that approximately one third of patients with congenital hypothyroidism had an accompanying disease, and cardiac diseases were the most common problem. It is concluded that evaluation of congenital hypothyroidism cases for accompanying diseases, detailed cardiological examination being in the first order, is important for prognosis.
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http://dx.doi.org/10.1515/jpem-2013-0282DOI Listing
May 2014

Short- and long-term effects of individualized enteral protein supplementation in preterm newborns.

Turk J Pediatr 2013 Jul-Aug;55(4):365-70

Divisions of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey.

The aim of this retrospective study was to assess the need for additional enteral protein supplementation in preterm newborns with gestational age (GA) ≤32 weeks after full enteral feeds with either fortified breast milk (FBM) or preterm formula (PF) were reached, and to determine the effects of additional protein on physical and neurological development. After the standard early total parenteral nutrition (TPN) and reaching full enteral nutrition with 150-160 ml/kg/day, preterms were assessed for the requirement of additional protein based on serum blood urea nitrogen (BUN)/prealbumin levels. Additional enteral protein was given for BUN <5 mg/dl and/or prealbumin ≤8 mg/dl with weekly assessments as per Neonatal Intensive Care Unit (NICU) protocol. Growth in the NICU and neurodevelopmental outcome at 18 months' corrected age (CA) were determined. There were 32 newborns in the non-supplemented group (Group 1) and 33 newborns in the supplemented group (Group 2). All newborns in Group 2 were on FBM. Weight gain and head growth were better and Bayley scores at 18 months' CA were higher in Group 2. Standard preterm nutrition with FBM may not be sufficient for preterms, and additional enteral protein supplementation may improve the physical growth rate in the NICU and result in better neurodevelopmental outcome at 18 months' CA.
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August 2014

A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.

J Pediatr Endocrinol Metab 2014 Mar;27(3-4):383-7

The most common congenital endocrine disorder is congenital hypothyroidism (CH), which can lead to mental retardation if untreated. Majority of the patients have been found to have defects in thyroid development and migration disorders (dysgenesis), and the remaining ones have thyroid hormone synthesis defects (dyshormonogenesis). One of the most common mechanisms to cause dyshormonogenesis is a defect in the thyroid peroxidase (TPO) enzyme. In familial cases, mutations in the TPO gene are fairly prevalent. To date, more than 80 mutations have been identified, which result in variably decreasing TPO bioactivities. Clinical manifestations of TPO defects are typically permanent CH and with or without goiter. In this report, we presented two children with CH who were born to consanguineous parents and were homozygous carriers of a missense (G319R) TPO mutation, the mutation segregated with the disease status in the families confirming its pathogenicity. G319R mutation seemed to be a common cause of CH in Turkish population, which could originate from a common founder ancestor. Moreover, our results also confirmed the phenotypic variability associated with different TPO mutations.
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http://dx.doi.org/10.1515/jpem-2013-0203DOI Listing
March 2014

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism.

J Pediatr Endocrinol Metab 2014 Mar;27(3-4):323-7

Mutations in DUOX2 have been reported to cause congenital hypothyroidism (CH), and our aim in this study was to determine the genetic basis of CH in two affected individuals coming from a consanguineous family. Because CH is usually inherited in autosomal recessive manner in consanguineous/multicase families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes. First, we investigated the potential genetic linkage of the family to any known CH locus using microsatellite markers and then screened for mutations in linked genes by Sanger sequencing. The family showed potential linkage to DUOX2 locus and we detected a nonsense mutation (R434X) in both cases and the mutation segregated with disease status in the family. This study highlights the importance of molecular genetic studies in the definitive diagnosis and classification of CH, and it also suggests a new clinical testing strategy using next-generation sequencing in all primary CH cases.
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http://dx.doi.org/10.1515/jpem-2013-0314DOI Listing
March 2014

Long-term follow-up of Cushing's disease:a case report.

J Clin Res Pediatr Endocrinol 2013 Sep;5(3):202-5

Sami Ulus Women Health, Children's Education and Research Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey. E-mail:

Cushing's disease is a condition in which hypercortisolism develops due to excessive hypophyseal adrenocorticotropic hormone production. It is rare in childhood. In this paper, we report the case of a 10-year-old male patient with hypophyseal microadenoma-related Cushing's disease who presented with obesity and was found to show poor height growth at follow-up. The diagnosis was confirmed with inferior petrosal sinus sampling, and the adenoma was successfully removed by transsphenoidal surgery. While adrenal axis suppression continued for approximately 1 year, clinical improvement was clearly observed after the third month following surgery. The findings in this patient demonstrate that decreased growth rate despite rapid weight gain in children can be early sign of Cushing's disease and emphasize the importance of monitoring of growth in obese children.
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http://dx.doi.org/10.4274/Jcrpe.993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814537PMC
September 2013

Hyperinsulinemic hypoglycemia: experience in a series of 17 cases.

J Clin Res Pediatr Endocrinol 2013 Sep;5(3):150-5

Dr. Sami Ulus Training and Research Children's Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey. E-mail:

Objective: Hyperinsulinemic hypoglycemia (HIH) is a genetically heterogeneous disorder with both familial and sporadic variants. Patients with HIH may present during the neonatal period, infancy, or childhood and may show transient, prolonged, and persistent features. In this study, we aimed to discuss our experience with HIH patients, based on a series of 17 patients.

Methods: We retrospectively analyzed the clinical and laboratory characteristics at the time of diagnosis and during treatment and evaluated the neurodevelopmental outcomes during follow-up in 17 HIH patients, who presented or were referred to the Pediatric Endocrinology Clinic of Dr. Sami Ulus Training and Research Children's Hospital between 1998 and 2011. The patients (7 male, 10 female) were aged between the first day of life and 7 years - 10 were in their first week of life, 6 in their infancy, and 1 in childhood.

Results: None of the mothers had gestational diabetes. Hypoglycemic seizure (76.5%) was the most common presenting symptom. Medical treatment failed in two patients, and was stopped in eight patients. Of two diazoxide-unresponsive patients, one underwent near-total pancreatectomy, but hypoglycaemic episodes continued after surgery. The parents of other patient refused surgery, the medical treatment was continued, nevertheless, severe motor and mental retardation developed. At follow-up, 23.5% of the patients were found to have mild or moderate psychomotor retardation, and 23.5% developed epilepsy. There was no marked difference in neurological results between cases with onset in the neonatal period or in infancy.

Conclusions: Clinical course and treatment response in HIH cases are very heterogeneous. Long-term careful monitoring is needed to detect and treat the complications.
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http://dx.doi.org/10.4274/Jcrpe.991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814529PMC
September 2013