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Using World Health Organization (WHO) standards in pediatric practice is still controversial in many countries. It is suggested that national growth charts best reflect the genetic and ethnic characteristics of a population. The aim of this study was to compare length/height, body weight, and body mass index (BMI) in healthy Turkish children of ages 0 to 18 with those proposed by WHO as the international growth standards.The data of Turkish children were collected from infant/child population aged 0-5 years (2391 boys, 2102 girls) and children of ages between 6-18 years (1100 boys, 1020 girls). For comparison, the 50Heights were essentially similar in the Turkish and WHO data at ages between 3-10 years. Turkish children were markedly taller compared to the WHO standards after the age of 10 years. Evaluation of the 3rd percentile data revealed that Turkish boys were shorter than the WHO subjects in the first 2 years of life. From 6 months of age, Turkish children showed higher weight for age values in the 3WHO growth standards do not reflect the growth of Turkish children and may substantially alter the prevalence of short stature and underweight in Turkish children in the 0-5 years age group. When assessing the nutritional and growth status of children, national growth standards may be more appropriate.

Osteogenesis imperfecta (OI) is a genetic disease characterized by fragile bones and variable short stature.We performed a retrospective cohort study to evaluate demographic data, clinical findings, growth and pubertal characteristics, and medical treatment of 83 OI patients.83 (31 female/52 male) patients were enrolled in the study. The median follow-up duration was 4.7 (0.6-17.7) years. 51 out of 83 patients (61.4%) received bisphosphonate therapy. The median Z-score of the bone mineral density improved in patients with OI-I and OI-III with the treatment. During follow-up, height-SDS significantly increased in both OI-I and OI-III on treatment; however, final adult height SDS of patients did not improve. The frequency of overweight and obesity was found to be increased at the last evaluation compared to the admission. The rate of precocious puberty (PP) and early puberty (EP) were 20 and 10% in girls, and they were 15.7 and 47.3% in boys, respectively.Reduced growth, significant weight gain over time due to impaired mobility, and high frequency of PP/EP require effective interventions to improve mobility and functional parameters as early as possible in children with OI.ZIEL: Osteogenesis imperfecta (OI) ist eine genetisch-bedingte Erkrankung mit fragilen Knochen und variabler Kleinwuchsform.Wir führten eine retrospektive Kohortenstudie durch, um demografische Daten, klinische Befunde, Wachstums- und Pubertätsmerkmale sowie die medizinische Behandlung von 83 OI-Patienten zu bewerten.83 (31 weibliche/52 männliche) Patienten wurden in die Studie aufgenommen. Der Median der Follow-up-Dauer lag bei 4,7 (0,6–17,7) Jahren. 51von 83 (61,4%) Patienten erhielten die Bisphosphonat-Therapie. Der Median Z-Score der Knochenmineraldichte verbesserte sich bei Patienten mit OI-I und II-III mit der Behandlung. Während des Follow-ups stieg die Größe-SDS sowohl bei OI-I als auch bei OI-III unter Behandlung signifikant an; das endgültige SDS der Erwachsenengröße der Patienten verbesserte sich jedoch nicht. Die Häufigkeit von Übergewicht und Adipositas war bei der letzten Bewertung im Vergleich zur Aufnahme erhöht. Die Rate der vorzeitigen Pubertät (precocious puberty – PP) und der frühen Pubertät (early puberty – EP) betrug bei Mädchen 20% bzw. 10% und bei Jungen 15,7% bzw. 47,3%.Reduziertes Wachstum, signifikante Gewichtszunahme im Laufe der Zeit aufgrund eingeschränkter Mobilität und hohe Häufigkeit der PP/EP erfordern wirksame Interventionen, um die Mobilität und die funktionellen Parameter so früh wie möglich bei Kindern mit OI zu verbessern.

Aim: The aim of this study is to determine the triggering role of parvovirus B19 in the pathogenesis of autoimmune thyroiditis in adolescence. Materials and Methods: Thirty-five patients aged 10-18 years who were diagnosed with Hashimoto's thyroiditis in the last 6 months were included in the study. As the control group, 35 healthy volunteers without Parvovirus B19-associated acute disease, no goiter in physical examination, no family history of thyroid disease, and normal thyroid function tests were recruited. Serum samples from the participants were tested for Parvovirus B19 IgM and IgG antibodies and Parvovirus B19 DNA. Statistical analysis was performed using SPSS (Statistical Package for Social Sciences) package programme 21.0. We considered p

Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5α-RD.Patients diagnosed as AIS or 5α-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-α-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of ≥20, whereas the androgen receptor (A total of 128 DSD patients from 125 non-related families were enrolled. Birth weight SDS and gestational weeks were significantly higher in 5α-RD group than in AIS and undiagnosed groups. Completely female phenotype was higher in all subgroups of both AIS and 5α-RD patients than in the undiagnosed subgroups. In those patients with stimulated T/DHT20 in the prepubertal period, stimulated T/DHT ratio was significantly lower in AIS than in the undiagnosed group, and higher in 5α-RD. Phenotype associated variants were detected in 24% (n=18 AIS, n=14 5α-RD) of the patients, revealing four novel AR variants (c.94GT, p.Glu32*, c.330GC, p.Leu110=; c.2084CT, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330GC with silent status remained undefined in terms of its causative effects.T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular diagnosis is important for the robust diagnosis of 46,XY DSD patients. Four novel

Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenal insufficiency and T-box pituitary restricted transcription factor (TBX19) mutations are responsible for two-thirds of the neonatal onset form of the disease. IAD presents with hypoglycemia and prolonged jaundice in the neonatal period. TBX19 is important for both pro-opiomelanocortin (POMC) gene transcription and differentiation of POMC-expressing cells. We describe 2 patients, 1 with a reported and 1 with a novel TBX19 mutation, and present information about the long-term follow-up of these patients.Both patients had critical illnesses, recurrent hypoglycemia, convulsions, and neonatal hyperbilirubinemia. They also had low cortisol and ACTH levels, while other pituitary hormones were within the normal range. Pituitary imaging was normal. After hydrocortisone treatment, there was resolution of the hypoglycemia and the convulsions were controlled. Genetic studies of the patients revealed both had inherited a homozygous mutation of the TBX19 gene. The first patient had an alteration of NM_005149.3:c.856CT (p.R286*) and the second patient had a novel NM_005149.3:c.584CT (p.T195I) mutation, analyzed by next-generation sequencing. The noteworthy findings of the patients at follow-up were: short stature, microcephaly, and decreased pubic hair in the first, and dysmorphic features, Chiari type 1 malformation, tall stature, and low bone mineral density (BMD) in the second.Congenital IAD can be life-threatening if it is not recognized and treated early. TBX19 mutations should be considered in the differential diagnosis of IAD. Further cases or functional analyses are needed for genotype-phenotype correlations. Low BMD, dysmorphic features, Chiari type 1 malformation, and sparse pubic hair are some of the important features in these patients.

Hypoglycemia is one of the most important and most common metabolic problems of the newborn because it poses a risk of neurological injury, if it is prolonged and recurs. Therefore, newborns who carry a risk of hypoglycemia should be fed immediately after delivery and the blood glucose level should be measured with intervals of 2-3 hours from the 30Hipoglisemi, uzun sürmesi ve tekrarlaması durumunda nörolojik zedelenme riski nedeniyle, yenidoğanın en önemli ve en sık metabolik sorunlarından birisidir. Bu nedenle, hipoglisemi riski taşıyan yenidoğanlar, doğum sonrası hemen beslenmeli ve beslenme sonrası 30. dakikadan itibaren 2-3 saat aralıklarla kan glukozuna bakılmalıdır. Hipoglisemi eşik değerleri, ilk 24 saat için belirtisi olanlarda 40 mg/dL, belirtisiz olanlarda 0 - 4 saatte 25 mg/dL, 4-24 saat aralığında 35 mg/dL, 24 saatten sonra 50 mg/ dL, 48 saatten sonra ise 60 mg/dL olarak kabul edilebilir. Tarama hastabaşı test çubukları ile yapılmalı, sınıra yakın değerlerde, laboratuvar yöntemi ile doğrulama yapılırken, gerekliyse tedavi başlanmalıdır. Tedavi ile ulaşılması hedeflenen düzeyler, beslenme öncesi postnatal ilk 48 saatte 50 mg/dL, 48 saatten sonra riskli olanlarda 60 mg/dL, kalıcı hipoglisemili olgularda ise 70 mg/dL’nin üstü olarak kabul edilebilir. Kan glukozu eşik değerin altında olan ve beslenme ile yükseltilemeyen durumlarda, 6-8 mg/kg/dk glukoz infüzyonu başlanmalı, belirti eşlik etmesi durumunda ise 2 ml/kg %10 dekstroz minibolus eşlik etmelidir. Hedef düzeye ulaşılamaması durumunda artışlar ve beslenme ile stabilizasyonun sağlanması durumunda azaltmalar 2 mg/kg/dk olarak yapılmalı, infüzyon hızının 3-5 mg/kg/dk’ye inmesi durumunda ise infüzyon sonlandırılmalıdır. Gerekliyse ayırıcı tanı açısından kan örnekleri hipoglisemi sırasında alınmalı ve araştırma, enteral beslenen bebeklerde 6 saatlik beslenmeme periyodu sonrasında, parenteral infüzyon alanlarda ise plazma glukozunun50 mg/dL olduğu herhangi bir zamanda yapılır. İnfüzyonları sonlandırılan riskli gruptaki hipoglisemik bebekler, plazma glukoz düzeyleri beslenme öncesi iki kez hedef düzeylerde saptanması durumunda, kalıcı, ciddi ya da dirençli hipoglisemili bebekler ise, plazma glukoz düzeyleri 6 saatlik açlık sonrası60 mg/dL olması durumunda taburcu edilebilirler.

Objective: Current guidelines recommend vitamin D supplementation during the adolescence period. Studies showed that the deficiencies of vitamins D and B12 are common in children in developing countries. On the other hand it is important to have optimum levels of vitamin D and B12 during the puberty. This study aims to evaluate the vitamin D and vitamin B12 levels of adolescents admitted to the outpatient department. Material and Method: The study was carried out in the Istanbul Medical Faculty, Department of Adolescent Health outpatient clinic between January to December 2014. The records of the adolescents aged 10-20 years were analyzed retrospectively. Of 187 adolescents were evaluated for vitamin 25 OH D and 219 were evaluated for vitamin B12. Results: Of 187 adolescents 56% had 25-OH vitamin D level ≤20 ng/ml, and 36% between 20-30 ng/ml. There were no statistically significant difference between genders or months in a year. Serum vitamin B12 levels were below the optimal level (

Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS. Growth retardation is a classic feature of NS, but growth hormone (GH) deficiency with subsequent response to GH therapy is not documented in the literature. It is proposed that a lack of inhibition of proteases due to a deficiency of LEKTI in the pituitary gland leads to the overprocessing of human GH in NS. Herein we report three patients with NS who had growth retardation associated with GH deficiency and responded well to GH therapy.

The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17α-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17α-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism. A 6-year-old phenotypically female patient presented with hypertension and hyperpigmentation. Her blood test results showed low cortisol and high adrenocorticotropic hormone (ACTH), progesterone, deoxycorticosterone and gonadotropin levels and were consistent with the diagnosis of 17α-hydroxylase/17,20-lyase deficiency. Her karyotype was 46XY. Genetic studies of the patient revealed a novel homozygous point mutation, c.1307GA, within the coding sequence of the CYP17A1 gene. 17α-hydroxylase/17,20-lyase deficiency should be considered in the differential diagnosis of hypertension in children and adolescents, and physical examination of these patients should be done very carefully.

Although studied widely in adulthood, little is known about endocrinological disorders during critical illnesses in childhood. The aims of this study were to define the endocrinological changes in patients admitted to pediatric intensive care unit (PICU) and to identify their effects on prognosis.Forty patients with a mean age of 5.1 years admitted to PICU were enrolled in the study. Blood samples were taken at admission and at 24 and 48 h to measure cortisol, adrenocorticotropic hormone (ACTH), prolactin, growth hormone (GH), GH binding protein (GHBP), insulin-like growth factor-binding protein-3 (IGFBP-3) and interleukin-6 (IL-6). The severity of the patient's condition was assessed using pediatric risk of mortality (PRISM) and pediatric logistic organ dysfunction (PELOD) scores.PRISM and PELOD scores were significantly higher in non-survivors. Cortisol, ACTH, prolactin, GH, GHBP, IGFBP-3 and IL-6 were not significantly different between the survivors and non-survivors. There was a negative correlation between baseline IGFBP-3 and PRISM scores. A positive correlation was seen between cortisol level at 24 h and PRISM score. On multivariate linear regression analysis, PRISM score was best explained by ACTH and cortisol at 24 h. A positive weak correlation was detected between IL-6 at 24 h and PELOD scores.Although there was no difference between survivors and non-survivors regarding the studied endocrine parameters, there were associations between cortisol, ACTH, IL-6 and IGFBP-3 and risk assessment scores, and, given that these scores correlated with mortality, these parameters might be useful as prognostic factors.

It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature. A 10.5-year-old boy was brought to our clinic with complaints of polydipsia, polyuria and weight loss and was diagnosed as diabetic ketoacidosis due to autoimmune type 1 DM. Insulin therapy was started. Elevated thyroid antibodies associated with diffuse goiter and hypothyroidism led to the diagnosis of autoimmune thyroid disease (ATD), and elevated antiendomysial antibodies and abnormal intestinal biopsy findings led to the diagnosis of celiac disease (CD). L-thyroxine therapy and gluten-free diet were initiated accordingly. At the third-year of follow-up, acute attacks of fever, abdominal pain and chest pain developed. Laboratory investigations, which were normal between the attacks, revealed elevated erythrocyte sedimentation rate, fibrinogen, white blood cell count and pleural effusion on chest X-ray during the attacks. Molecular analysis for FMF revealed compound heterozygous M694I and V726A. The patient responded well to colchicine therapy started at a dose of 1.5 mg/day. We present the second patient with type 1 DM associated with FMF who also had ATD and CD.

Resistance to thyroid hormone (RTH) syndrome is a rare disorder usually inherited as an autosomal dominant trait. The combination of elevated serum levels of free thyroid hormones with elevated thyroid-stimulating hormone (TSH) suggest differential diagnoses of RTH, thyroxine-binding globulin abnormalities, familial dysalbuminemic hyperthyroxinemia and TSH-secreting pituitary tumors. We report a patient with RTH in a Turkish family. The diagnosis was confirmed by the identification of a known disease-causing mutation in the thyroid hormone receptor-beta (THRbeta) gene, but is the first published in the Turkish population. Genetic analysis of the mother and the patient yielded a mutation in the THRbeta gene, A317T, due to a base pair substitution of an adenine for a guanine.

The aim of this study was to analyze head circumference (HC) growth retrospectively in longitudinally followed growth hormone (GH)-deficient children on GH therapy. Data of 54 (25 F, 29 M) children with GH deficiency were analyzed by dividing the children into two groups: Group 1 with height age (HA)or =5 years (yrs) (n:18) and Group 2 with HA5 yrs (n:36). Anthropometric measurements were expressed as standard deviation score (SDS) for chronological age (CA), and HC was also expressed as SDS for CA and HA. Group 1, with CA 6.6 (2.9) yrs at onset of therapy, showed an increase in height SDS from -3.8 (1.4) to -2.4 (1.7) (p0.001) and in HC SDS for CA from -1.9 (1.5) to -1.3 (1.6) (p0.05) on 4.8 (3.5) yrs of therapy. Group 2, with CA 12.6(2.2) yrs, increased height SDS from -3.4 (1.3) to -2.5 (1.4) (p0.001) and HC SDS for CA from -1.2 (1.3) to -1.4(1.2) (NS). HC SDS for HA was -0.4(1.3) in Group 1 and -0.2 (1.1) in Group 2 and showed no significant change. When analyzed by quartiles for cumulative dose of GH, HC SDS for HA became 0.08(1.2) in the fourth dosage quartile (p = 0.043), not significantly different from the mean. HC is disproportionately small for age but normal for the height. GH treatment results in an increase in HC of the children towards normalization in younger children. An increase in cumulative GH dose is associated with an increase in HC, but this is not inappropriate.

The aim was to evaluate postnatal growth of preterm infants in childhood and to determine factors that have an effect on catch-up growth (CUG). Ninety-six (42F, 54M) preterm born children with a gestational age of 32.6+/-2.9 weeks and birth weight of 1815+/-668 g were evaluated at age 4.7+/-1.1 years. Preterm children with birth weight and/or length below 10th percentile were accepted as small-for-gestational age (SGA) and those above as appropriate-for-gestational age (AGA). Height SDS was similar (-0.5+/-1.0) in preterm AGA and SGA children. Both groups had low body mass index (BMI) SDS (-0.6+/-1.4 and -1.0+/-1.5, respectively). Of the preterm SGA children, 65.8% showed a CUG in height and 3.8% catch- down growth. These rates were 24.6% and 33.5% in preterm AGA children. CUG in height was best explained by birth length and mother's height and CUG in weight by birth weight and mother's weight. In conclusion, although most of the preterm SGA children show CUG, they reach a compromised height in childhood. A number of preterm AGA children show a catch-down growth.

Worster-Drought syndrome (WDS) (congenital bilateral perisylvian syndrome, congenital pseudobulbar paresia) is characterized by neuronal migration defect, pseudobulbar paralysis, epilepsy, neuromotor retardation and perisylvian dysplasia. We report a patient with WDS associated with posterior pituitary ectopia, pituitary hypoplasia, partial empty sella and panhypopituitarism, not previously reported in the literature. The 16.4 year-old female patient had severe growth retardation with height SDS -4.5, delayed puberty, microcephaly, pes equinovarus deformity, developmental delay, speech disorder and epilepsy. Laboratory findings, which revealed abnormal electroencephalography and bilateral perisylvian cortical dysplasia on cranial magnetic resonance imaging (MRI) were consistent with WDS. Endocrinological evaluation revealed secondary hypothyroidism and combined deficiency of adrenocorticotropin, gonadotropin and growth hormone (GH). Sella MRI showed congenital empty sella, anterior pituitary hypoplasia, ectopic neurohypophysis, and stalk agenesis. Appropriate replacement therapy was started. GH treatment resulted in a final height of 150.3 cm, appropriate for her target height. This is the first reported patient with WDS associated with congenital structural hypothalamic-pituitary abnormalities, including empty sella, pituitary hypoplasia, posterior pituitary ectopia, stalk agenesis and panhypopituitarism. GH has been successful in the treatment of her short stature.