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.

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.

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.

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.

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.

An unusual case of an aldosterone-producing adrenocortical adenoma presenting with rhabdomyolysis.

Rhabdomyolysis is a rare presentation of hypokalemia, although muscle weakness is a well known manifestation of marked hypokalemia. Here, we report a case of primary hyperaldosteronism due to unilateral aldosterone-producing adenoma in a 14 year-old girl who developed rhabdomyolysis following hypokalemia. To our knowledge, this is the first case of adrenocortical adenoma presenting with rhabdomyolysis in a child.

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.

Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia.

Idiopathic hypertrophic osteoarthropathy is a rare syndrome, characterized by clubbing, progressive enlargement of the joints, coarse facial features suggesting acromegaly, palmoplantar hyperhidrosis, fibrous covering at the ends of long bones (periostosis), and acro-osteolysis. It is a self-limiting condition but arthralgia may be as severe as limiting social life and activity, and it is the main complaint to be treated. We report on two siblings with pachydermoperiostosis (PDP), one of whom had arthralgia. Although several drugs have been used, we used tamoxifen for his arthralgia and his complaint disappeared. To the best of our knowledge, this is the second case treated by tamoxifen reported in the literature.

Necrotizing enterocolitis increases the bone resorption in premature infants.

BACKGROUND: Necrotizing enterocolitis is a common neonatal gastrointestinal disease that affects approximately 10% of premature infants less than 1500 g. The average mortality is 20-40% and survivors may present with diarrhea or malabsorption, intestinal strictures and fistulas, feeding abnormalities and failure to thrive. It is not clear whether the higher incidence of this gastrointestinal disease in premature infants contributes to the risk of osteopenia of prematurity. AIM: To examine bone turnover state in premature infants who had a necrotizing enterocolitis attack during postnatal period. STUDY DESIGN AND SUBJECTS: We examine the bone turnover markers in infants with necrotizing enterocolitis and compare them with infants with sepsis. Forty-one premature infants participated in the study and were divided into three groups. In group I, there were 14 premature infants who developed necrotizing enterocolitis with negative blood culture during their hospitalization. In group II, there were 12 premature infants who developed sepsis during their hospitalization. Age-matched 15 premature infants who were given parenteral nutrition served as control group (group III). Blood samples and 6-h urine samples were obtained for bone turnover markers and calcium, phosphorous, creatinine and 25-hydroxy vitamin D between the day 20 and 25. Bone osteoblastic activity was assessed by measurement of serum osteocalcin. Bone resorption was assessed by measurement of serum levels of beta-CrossLaps and urinary deoxypyridinoline. RESULTS: There were no significant differences in bone osteoblastic activity among the groups, but bone resorption markers were significantly higher in infants with necrotizing enterocolitis compared to other groups (p < 0.016). CONCLUSION: Necrotizing enterocolitis increases the bone resorption in premature infants. It may be related with reduced glucagon like peptide-2 levels, a new intestinal hormone that is primary secreted from distal small intestine.

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.

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.

Wilms' tumor in a case with Möbius' syndrome associated with arthrogryposis and mega cisterna magna.

Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interesting because she developed Wilms' tumor at 21 months of age. To our knowledge, this is the first case of this association reported in the literature.

The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excessive androgen exposure in the gestational period and various degrees of masculinization of the external genitalia in female foetuses. Intrauterine gonadal steroids are not only essential for the development of the genital organs but also affect some other extragenital organ development. The second to fourth digit (2D/4D) ratio shows a sexually dimorphic pattern with longer fourth digit from second digit in men compared to women. A low 2D/4D ratio is associated with high sperm count, testosterone levels and reproductive success in men. A high 2D/4D ratio is associated with high oestrogen levels in women. Second and fourth digit ratio has also found to be correlated with sexual orientation, left hand preference autism and some adult onset diseases such as breast cancer and myocardial infarction. We found lower 2D/4D ratio in female patients with 21-hydroxylase deficiency compared to healthy girls (p=0.000) and equal 2D/4D ratio for female patients when compared to male controls. Male patients with 21-hydroxylase deficiency had significantly lower 2D/4D ratio than female and male controls in the right hand. Healthy boys had lower 2D/4D ratio than healthy girls. It is concluded that 2D/4D ratio established by intrauterine androgen levels influences the sexually dimorphic digit pattern.

GAPO syndrome: first patients with partially empty sella.

GAPO refers to a syndrome of growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). We present for the first time children (two brothers) with GAPO syndrome associated with partially empty sella. We suggest that radiographic evaluation of the sella turcica and endocrinological follow-up are necessary in children with GAPO syndrome.

Sphenoid sinus involvement in neuroblastoma: a case report and review of the literature.

Neuroblastoma is the most common extracranial solid tumors of childhood. The most frequent anatomic site of the primary tumor is abdomen. Metastatic spread of neuroblastoma to lymph node, bone, bone marrow and liver are common at presentation. However, primary or metastatic involvement of sphenoid sinus is extremely rare. Here, we report a case with stage IV neuroblastoma presents with the involvement of the sphenoid sinus. To our knowledge this is the fourth case of neuroblastoma involved sphenoid sinus in English literature.

C-reactive protein: a sensitive marker in the management of treatment response in parapneumonic empyema of children.

C-reactive protein (CRP) is one of the best indicators of the acute phase response to inflammation. The rapid kinetics of CRP metabolism appears to closely parallel the degree of inflammation. The purpose of this prospective study was to analyze the clinical value of CRP, erythrocyte sedimentation rate (ESR), and white blood cell count (WBC) in the assessment response to treatment in children with parapneumonic empyema. Thirty-eight children were prospectively studied. CRP was elevated in all patients on the day of hospital admission. With antibiotic treatment, serum CRP levels fell rapidly within the first days, and in 32 patients who had uncomplicated course, serial CRP levels fell progressively at each measurement. All but four patients had normal CRP levels on the day of hospital discharge. ESR was also elevated in all patients on the day of hospital admission. Despite antibiotic treatment, ESR continued to increase in all patients in the first few days, with peak values reached on day 3. Only three patients had normal ESR levels on the day of hospital discharge. In six patients who had a complicated course, after an initial decrease, CRP levels began to rise earlier than ESR and WBC count. Plasma CRP level is a sensitive marker not only in the diagnosis of parapneumonic empyema, but also in the management of treatment response.