Partial remission in children and adolescents with type 1 diabetes: an analysis based on the insulin dose-adjusted hemoglobin A1c.

OBJECTIVES: Most patients with type 1 diabetes (T1D) experience a transient phase of partial remission (PR). This study aimed to identify the demographic and clinical factors associated with PR. METHODS: This was a longitudinal retrospective cohort study of 133 children and adolescents with T1D. PR was defined by the gold standard insulin dose-adjusted hemoglobin A1c (HbA1c) (IDAA1c) of ≤9. RESULTS: Remission was observed in 77 (57.9%) patients. At diagnosis, remitters had significantly higher pH (7.3 ± 0.12 vs. 7.23 ± 0.15, p=0.003), higher C-peptide levels (0.45 ± 0.31 ng/mL vs. 0.3 ± 0.22, p=0.003), and they were significantly older (9.3 ± 3.6 years vs. 7.3 ± 4.2, p=0.008) compared with non-remitters. PR developed more frequently in patients without diabetic ketoacidosis (DKA) (p=0.026) and with disease onset after age 5 (p=0.001). Patients using multiple daily insulin regimen were more likely to experience PR than those treated with a twice daily regimen (63.9 vs. 32%, p=0.004). Only age at onset was an independent predictor of PR (OR: 1.12, 95% CI: 1-1.25; p=0.044). Remitters had lower HbA1c levels and daily insulin requirement from diagnosis until one year after diagnosis (p<0.001). PR recurred in 7 (9%) patients. The daily insulin requirement at three months was lower in remitters with PR recurrence compared to those without (0.23 ± 0.14 vs. 0.4 ± 0.17 U/kg/day, p=0.014). CONCLUSIONS: Addressing factors associated with the occurrence of PR could provide a better comprehension of metabolic control in T1D. The lack of DKA and higher C-peptide levels may influence PR, but the main factor associated with PR presence was older age at onset. PR may recur in a small proportion of patients.

The effects of valproate and topiramate use on serum insulin, leptin, neuropeptide Y and ghrelin levels in epileptic children.

PURPOSE: Although some drugs used in the treatment of epilepsy are known to affect body weight, the hormonal factors responsible have not been sufficiently described. The purpose of this study was to compare insulin, leptin, neuropeptide Y and ghrelin levels in children with epilepsy receiving monotherapy with topiramate (TPM) and valproic acid (VPA), the drugs whose effects on body weight have been most discussed, with those of a control group. METHOD: 48 patients (25 VPA, 23 TPM) aged between 6 and 15.5 years, presenting to the Karadeniz Technical University Medical Faculty Pediatric Neurology Clinic, diagnosed with idiopathic epilepsy or location-related idiopathic epilepsy, and receiving VPA or TPM monotherapy for at least 6 months were included in the study. Twenty-five healthy subjects with similar demographic characteristics were enrolled as the control group. Blood samples were collected from the patient and control groups after fasting for at least 10-12 h and again 1 and 2 h postprandially. Body mass index (BMI) values were calculated for all cases. VPA levels, glucose, insulin, leptin, neuropeptide Y and ghrelin were investigated in all three separate blood samples. RESULTS: Age, height, weight and BMI were similar between the patient and control groups. Significant weight gain was observed throughout treatment in the VPA group compared to the TPM group. High fasting and postprandial insulin levels were observed in the VPA group. VPA group leptin and neuropeptide Y (NPY) levels were also higher than in the TPM and control groups. No significant difference was determined in ghrelin levels in the patient groups compared to the controls. CONCLUSION: Low blood sugar not being observed, even though insulin levels are high, after fasting and in the postprandial period in epileptic children receiving VPA is indicative of insulin resistance. The elevation in leptin and neuropeptide Y levels observed in the VPA group also suggest this.

Association between Adherence to the Mediterranean Diet and Presence of Nonalcoholic Fatty Liver Disease in Children.

OBJECTIVE: The study's objective was to analyze the association between the adherence to the Mediterranean diet (MD) and the presence of nonalcoholic fatty liver disease (NAFLD) in children. METHODS: The study consisted of three groups of children. Group 1 included obese/overweight children with recent diagnosis of NAFLD (n = 106, 12.4 ± 2.6 years). Group 2 included obese children without NAFLD (n = 21, 11.3 ± 2.6 years). Group 3 included the healthy children (without known chronic disease) with normal BMI (n = 54, 11.8 ± 2.9 years). Compliance to the MD was assessed by the KIDMED index score. RESULTS: KIDMED index score in obese children with NAFLD, without NAFLD, and healthy children were 2.6 ± 2.4, 4.6 ± 1.2, and 6.2 ± 1.9, respectively (p < 0.05 for group 1 versus 2, 1 versus 3, and 2 versus 3). Diet compliance was good in only 4.7% of the patients with NAFLD, whereas it was 31.5% in healthy children. KIDMED index score was negatively correlated with BMI (p < 0.05, r = -0.53), but no correlation was found with other parameters. The area under the receiver operation curve (AUROC) for predicting fatty liver disease in obese children (n = 127) with BMI and KIDMED index score was 0.78 (p < 0.05) and 0.24 (p < 0.05), respectively. BMI >26 has a sensitivity of 79.2% and specificity of 52.4%, and KIDMED index score ≤3 has a sensitivity of 66.9% and specificity of 76.1%. CONCLUSIONS: MD is an inexpensive and nontoxic dietary regimen and may be used as a therapeutic option in obese children with NAFLD.

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

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.

Vitamin D status and the effects of oral vitamin D treatment in children with vitiligo: A prospective study.

BACKGROUND & AIMS: Vitiligo is a pigmentary disorder and autoimmune pathogenesis seems most likely. Decreased vitamin D levels have been related to several autoimmune diseases. Little is known about the association of vitiligo and vitamin D. We aimed to evaluate serum 25-hydroxyvitamin D [25(OH)D] levels in children with vitiligo and to determine the efficacy of oral vitamin D therapy on the repigmentation of vitamin D deficient patients. METHODS: Thirty patients aged 6-17 years with vitiligo and 30 sex- and age-matched apparently healthy controls were included in this prospective study. Size of the vitiligo representative area was estimated using the point counting method and blood samples were obtained at the beginning and month six. By the end of the study, all patients treated with topical tacrolimus for six months and the patients who were vitamin D deficient (n = 14) had been on combination treatment of oral vitamin D and topical tacrolimus. A dose of 1500 IU/day vitamin D was given if the serum 25(OH)D levels <20 ng/ml and 3000 IU/day was given if the levels <10 ng/ml for six months. Serum 25(OH)D levels were measured by high-performance liquid chromatography. RESULTS: Serum 25(OH)D levels of patients and controls were not significantly different (p > 0.05). Lesion size decreased from 66.1 ± 58.3 cm2 to 48.0 ± 52.6 cm2 after six months of treatment in patients who received combination treatment (p < 0.001) and increased in patients who received only topical therapy from 34.8 ± 48.1 cm2 to 53.5 ± 64.9 cm2 (p < 0.01). CONCLUSIONS: Although we did not determine decreased serum 25(OH)D levels in children with vitiligo, we showed that combination treatment with oral vitamin D and topical tacrolimus is more effective in reaching repigmentation than topical tacrolimus alone. Oral vitamin D supplementation might be useful for children with vitiligo who are also deficient in vitamin D.

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

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.

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

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.

Lumbar puncture requirement in acute hemiparesis: diagnosis of tuberculous meningitis after hemiparesis in a child.

BACKGROUND: Infections are an important acquired cause of cerebral arteriopathy. Tuberculous (TB) meningitis leading to infectious cerebral vasculopathy is a rare cause of acute hemiparesis. CASE REPORT: A 14-year-old male patient was examined after acute hemiparesis developing within 1 day. Neurological examination revealed total hemiplegia on the left side. Brain MRI findings showed bilateral focal T2-weighted signal hyperintensity in the subcortical and deep white matter regions. There were also areas of restricted diffusion in the right basal ganglia. Although the father had a history of pulmonary TB, the patient had not been given TB prophylaxis because of PPD negativity. At lumbar puncture, opening cerebrospinal fluid (CSF) pressure was 50 cm/H20, CSF protein 66.9 mg/dL, and glucose 54 mg/dL (concurrent blood glucose 93 mg/dL); 170 polymorphonuclear leukocytes per cubic millimeter were present in CSF. Following tests for TB, treatment was started immediately with four anti-TB drugs. TB PCR of CSF and acid-fast bacteria (AFB) staining in gastric aspirate were positive. At clinical follow-up, the patient was able to walk with support at the end of the first month. CONCLUSION: Various infectious agents have been reported as causes of cerebral vasculopathy. TB, which affects a significant number of patients worldwide, should be kept in mind in terms of cerebral vascular complications. Lumbar puncture is essential in order to diagnose TB meningitis.

Seasonal vitamin D status of healthy schoolchildren and predictors of low vitamin D status.

OBJECTIVES: The aim of the study was to assess seasonal prevalence of vitamin D deficiency according to sex and to determine the relations between serum levels of 25-hydroxyvitamin D [25(OH)D] and parathyroid hormone (PTH) and sociodemographic characteristics in otherwise healthy schoolchildren during spring and autumn. METHODS: In a cross-sectional study, 746 healthy students aged between 11 and 18 years were recruited during spring (n = 375) and autumn (n = 371). Sociodemographic data were collected by a questionnaire. Serum 25(OH)D, PTH, calcium, phosphate, and alkaline phosphatase were measured. Serum 25(OH)D levels were categorized as <50 nmol/L (vitamin D deficiency) and <25 nmol/L (severe deficiency). RESULTS: Mean ± standard deviation 25(OH)D levels were 22.3 ± 10.5 nmol/L in girls and 28.5 ± 17.0 nmol/L in boys during spring (P < 0.001) and 36.5 ± 20.3 nmol/L in girls and 45.0 ± 18.5 nmol/L in boys during autumn (P < 0.001). The prevalence of vitamin D deficiency was 93% during spring and 71% during autumn. There was a negative correlation between 25(OH)D and PTH levels (P < 0.01). We determined a cutoff point of serum 25(OH)D in which the mean serum PTH concentration began to increase as 35.8 nmol/L (P < 0.0001). The age, sex, and calcium level were found to be independent predictors for vitamin D deficiency. CONCLUSIONS: Vitamin D deficiency is prevalent among healthy schoolchildren. It is noteworthy that 25(OH)D levels were significantly lower in girls and during autumn. We recommend vitamin D supplementation for children in addition to more time spent for outdoor activities for sensible sunlight exposure.

Compartment syndrome, disseminated intravascular coagulation, pneumonia, and acute renal failure due to varicella in a previously healthy child.

Varicella infections are usually considered to be benign. Although very rare, infection of an immunocompetent patient by this virus may result in a severe illness. We describe a case of varicella infection in a previously healthy, immunocompetent 5-y-old boy, complicated with compartment syndrome, disseminated intravascular coagulation (DIC), pneumonia, and acute renal failure. He was treated successfully with aciclovir and intravenous immunoglobulins for the varicella infection, a fasciotomy for compartment syndrome, and fresh frozen plasma for DIC.

Diabetes care, glycemic control, complications, and concomitant autoimmune diseases in children with type 1 diabetes in Turkey: a multicenter study.

OBJECTIVE: Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management of T1DM is to prevent micro- and macrovascular complications by achieving good glycemic control. The present study aimed to assess metabolic control, presence of concomitant autoimmune diseases, and of acute and long-term complications in patients diagnosed with T1DM during childhood and adolescence. The study also aimed to be a first step in the development of a national registry system for T1DM, in Turkey. METHODS: Based on hospital records, this cross-sectional, multicenter study included 1 032 patients with T1DM from 12 different centers in Turkey, in whom the diagnosis was established during childhood. Epidemiological and clinical characteristics of the patients were recorded. Metabolic control, diabetes care, complications, and concomitant autoimmune diseases were evaluated. RESULTS: Mean age, diabetes duration, and hemoglobin A1c level were 12.5 ± 4.1 years, 4.7 ± 3.2 years, and 8.5 ± 1.6%, respectively. Acute complications noted in the past year included ketoacidosis in 5.2% of the patients and severe hypoglycemia in 4.9%. Chronic lymphocytic thyroiditis was noted in 12%, Graves' disease in 0.1%, and celiac disease in 4.3% of the patients. Chronic complications including neuropathy, retinopathy, and persistent microalbuminuria were present in 2.6%, 1.4%, and 5.4% of the patients, respectively. Diabetic nephropathy was not present in any of the patients. Mean diabetes duration and age of patients with neuropathy, retinopathy and microalbuminuria were significantly different from the patients without these long-term complications (p<0.01). A significant difference was found between pubertal and prepubertal children in terms of persistent microalbuminuria and neuropathy (p=0.02 and p<0.001, respectively). Of the patients, 4.4% (n:38) were obese and 5% had short stature; 17.4% of the patients had dyslipidemia, and 14% of the dyslipidemic patients were obese. CONCLUSIONS: Although the majority of the patients in the present study were using insulin analogues, poor glycemic control was common, and chronic complications were encountered.

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders characterized by impaired production of adrenal steroids. Approximately 95% of all CAH are caused by mutations of the CYP21A2 that encodes 21-hydroxylase. In this study, mutation analyses of CYP21A2 were performed in 48 CAH patients from 45 Turkish families with the clinical diagnosis of 21-hydroxylase deficiency (21OHD). While in 39 (86.7%) of 21OHD patients, disease causing CYP21A2 mutations were identified in both alleles, in two 21OHD patients CYP21A2 mutations were identified only in one allele. In four patients, mutation was not detected at all. In total, seventeen known and one novel, disease causing CYP21A2 mutations were observed. Among identified mutations, previously described c.293-13C/A>G, large rearrangements and p.Q319X mutations were the most common mutations accounting for 33.3%, 14.4% and 12.2% of all evaluated chromosomes, respectively. In six families (13.3%) a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon was found. This mutation is not present in pseudogene CYP21A1P and causes the classical form of the disease in six patients. In addition, depending on the nature of the rearrangements CYP21A1P/CYP21A2 chimeras were further classified as CH(c/d), and CH-1(c) was shown to be the most prominent chimera in our study group. In conclusion, with this study we identified a novel founder CYP21A2 mutation and suggest a further classification for CYP21A1P/CYP21A2 chimeras depending on the combination of junction site position and whether it is occurred as a result of deletion or conversion. Absence of disease causing mutation of CYP21A2 in ten of screened ninety chromosomes suggests the contribution of regulatory elements in occurrences of CAH due to the 21OHD.

The effects of three specific conditions related to critical care on adrenal function in children.

PURPOSE: To evaluate the effects of three specific conditions related to critical care on adrenal function with special regard to the levels of serum cortisol, corticotropin (ACTH), dehydroepiandrosterone sulfate, and cytokines. METHODS: The study enrolled a total of 74 children who were divided into three groups. Group 1 comprised 23 patients who had acute critical illness (ACI) associated with severe sepsis/septic shock. Group 2 comprised 27 patients who had ACI without sepsis. Group 3 comprised 24 patients who underwent major surgery. Blood samples were obtained for baseline measurements and a low-dose ACTH stimulation test (LD-ST) was performed. Serial ACTH and cortisol levels were measured with an interval of 3 days and LD-ST was repeated on day 14 for all groups. RESULTS: Baseline cortisol, ACTH, and dehydroepiandrosterone sulfate levels were significantly higher in patients with adrenal insufficiency (AI) than those of without AI. AI was detected in four patients in group 1, seven in group 2, and ten in group 3. Consecutive cortisol and ACTH levels did not differ significantly among the groups. On day 14, the recovery rate in patients with AI was 82 % in the whole group. Patient's age and interleukin-10 level were found to be independent predictors of AI. CONCLUSIONS: A considerable proportion of patients in these three groups had AI with a high spontaneous recovery rate in 2 weeks. The presence of sepsis was not associated with an increased risk of AI. Our serial cortisol and ACTH values in these different groups could be used as reference values for further studies.

Reference intervals for thyrotropin and thyroid hormones and ultrasonographic thyroid volume during the neonatal period.

OBJECTIVE: To determine thyrotropin (TSH) and thyroid hormones reference ranges in healthy term newborns during the neonatal period and to assess the ranges of thyroid volume in newborns using ultrasound scanning. METHODS: Blood samples were collected from 296 healthy newborns at birth (cord; n: 47) and before feeding on the 1st, 3rd, 5th, 7th, 10th, 14th, and 28th days of life. The levels of TSH and thyroid hormones of the newborns were then compared with results from 50 healthy adults. Thyroid ultrasonography (USG) was performed by the same radiologist on 38 newborns aged 10 days. RESULTS: TSH and thyroid hormone levels in newborns were statistically higher than those in adults for each day (p < 0.001). Serum TSH concentration on the 1st day of life was higher than at other times (p < 0.001). Mean TSH concentration reverted to the cord level at the 5th or 7th day of life (p > 0.05). TSH levels were no higher than 10 mIU/ml after 2 weeks postnatal age. There was no correlation between hormone levels and Ponderal index (PI), birth weight, gender, or delivery type. Mean thyroid volume was 0.72 ± 0.24 ml (0.36-1.62 ml). CONCLUSIONS: We conclude that our results are important for CH screening regarding time-dependent changes of TSH and thyroid hormones besides diagnosis of thyroid hypoplasia or hyperplasia.

Adrenal hemorrhage in newborns: a retrospective study.

BACKGROUND: Adrenal hemorrhage (AH) is a relatively uncommon condition in neonates. This study aimed to review the clinical, laboratory and ultrasonographic findings of AH in newborns. METHODS: The medical records of 13 newborns with AH who had been admitted to our neonatal intensive care unit were retrospectively reviewed. RESULTS: Of the 13 newborns with AH, 8 (62%) were term and 10 (77%) were male babies. Clinical presentations included neonatal jaundice (85%), paleness and/or flank mass (38%), discoloration of the scrotum (15%), and hypotonia/lethargy or hypotension (8%). Five newborns had anemia and four had adrenal insufficiency. Adrenal insufficiency was observed in 80% of the premature infants with AH. AH occurred on the right side in 9 patients (69%). The most predisposing cause of AH was disseminated intravascular coagulation secondary to sepsis or perinatal hypoxia in preterm infants, and large for gestational age in term infants. Ultrasonography (USG) revealed a hypoechoic mass in 7 newborns (54%), a mixed solid-liquid mass in 5 (38%), and an echogenic mass (8%) in 1. Hemorrhage disappeared within 8.6 ± 4.5 (4-16) weeks. CONCLUSIONS: AH occurs in the newborns with unexplained jaundice. Adrenal insufficiency is more frequent in preterm than in mature infants. Abdominal USG is required to determine AH in a newborn with swelling and bluish discoloration of the scrotum. Serial USG is the best modality for monitoring AH to prevent unnecessary surgery.

Relevance of autoimmune thyroiditis in children and adolescents with vitiligo.

BACKGROUND: Vitiligo is the most common pigmentation-related disorder worldwide. An autoimmune etiology is widely considered, and genetic factors may play an important role in its pathogenesis. The purpose of this study was to assess the incidence of thyroid dysfunctions and autoimmune thyroiditis in children with vitiligo and to identify related factors. METHODS: Fifty children with vitiligo and 50 control children were enrolled. Data on age, onset, duration, disease activity, presence of thyroid disorder, other autoimmune diseases, halo nevi, poliosis, and mucosal vitiligo were determined. Serum free triiodothyronine, free thyroxine, total T3, total T4, thyroid-stimulating hormone, and antibodies to thyroperoxidase and thyroglobulin were measured. Thyroid gland efficiency was evaluated. RESULTS: The mean age at onset of vitiligo was 7.26 ± 4.43 years. The duration of vitiligo was 2.26 ± 2.95 years. Vulgaris-type vitiligo was the most common form in our patients (56%), and 42% reported at least one family member with thyroid disorder, autoimmune disease, or both. Overt hypothyroidism or hyperthyroidism were not detected. We found a significant association between autoimmune thyroiditis and both sex and disease duration (P = 0.046 and P = 0.07, respectively), but no association between autoimmune thyroiditis and age, age at onset of vitiligo, halo nevi, poliosis, mucosal involvement, disease activity, or family history of vitiligo, autoimmunity, or thyroid disorders. CONCLUSIONS: Children with vitiligo show an increased incidence of autoimmune thyroiditis. Children with vitiligo, especially girls and subjects with generalized/vulgaris-type vitiligo, should be screened annually for thyroid function and antithyroid antibodies to assist in the early diagnosis and therapy of autoimmune thyroiditis.

A Turner syndrome case associated with anal atresia, interrupted aortic arch and multicystic dysplastic kidney.

Although renal and cardiac malformations are commonly seen in Turner syndrome (TS), anorectal malformations, multicystic dysplastic kidney and interrupted aortic arch are quite rare in TS. A newborn with TS with three quite rare congenital malformations (imperforate anus/anal atresia associated with rectovestibular fistula, interrupted aortic arch, and multicystic dysplastic kidney) is presented.

High-dose methylprednisolone in children with Crimean-Congo haemorrhagic fever.

Treatment options for Crimean-Congo haemorrhagic fever (CCHF) are limited and based on general supportive managements. Thrombocytopenia is the major risk factor of CCHF. We report our experience with high-dose methylprednisolone (HDMP). This study included five patients with CCHF. Patients were given HDMP if there were findings compatible with virus-associated haemophagocytic syndrome and the effects of HDMP were evaluated. Following this, HDMP fever subsided and platelet counts increased within 24 hours. Leukocyte counts began to increase and visceral bleedings were improved. HDMP treatment was discontinued within approximately five days. After HDMP, only one patient required blood products. HDMP is effective in CCHF, especially on fever and platelet counts. Dependency on blood products was decreased. Further controlled randomized studies with large series are needed in order to analyse the timing and duration of HDMP treatment and its effect on outcome.

Cleidocranial dysplasia: a case report.

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, and a variety of other skeletal changes. A major finding of CCD is hypoplasia or aplasia of clavicular bones resulting in the ability of the patient to approximate the shoulders. Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing. We report a case of CCD in a 3.5-year-old boy who referred to our clinic because of an unclosed anterior fontanelle and emphasize the importance of clinical findings in CCD.