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Abstract: Background/Objectives: Chromhidrosis is a rare condition of which there are only a few case reports in the literature. The aim of this study was to evaluate clinical, laboratory, and possible environmental factors in 13 patients with chromhidrosis to elucidate causative agents. Methods: Data were obtained from the medical records of 13 patients with colored sweating between October 2015 and November 2016 (7 infants <1 year of age, 5 adults, 1 adolescent). Results: Physical examination was normal in all patients. Nine of 12 had high calculated serum free copper (75%). Urine glutamine was measured in 13 patients and was high in 11 (84.6%). Ten patients drank natural mineral water from Uludag Mountain, and two were exposed to an intrauterine device containing copper. One patient (8%) was not exposed to Uludag Mountain natural water or an intrauterine device. Conclusion: We propose that chronic exposure to water or devices that contain high amounts of heavy metal and ammonium may contribute to CH. [ABSTRACT FROM AUTHOR]

Purpose: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. Method: Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated. Results: The age of the patients was between 13 and 25 years. All female patients were diagnosed with primary ovarian insufficiency (POI) based on amenorrhea and elevated gonadotropins. The ovary volumes in female patients were determined to be smaller than normal for their age through sonographic studies. Short stature associated with gonadal insufficiency was also observed in three patients. Conclusion: The HAX1 gene is important for ovarian development, in which a p.Trp44X mutation may cause POI in female patients. It is crucial to follow up and evaluate the gonadal functions of female patients in such cases. [ABSTRACT FROM AUTHOR]

Background The aim of this retrospective study was to investigate pheochromocytoma (pheo), which is a rare endocrine tumor in the pediatric population. Methods The medical records of five children with pheo were studied. The age, gender, clinical presentation, family history, physical findings, coexisting pathology, laboratory evaluation, surgical treatment, and postoperative course were investigated. Results The patients were four girls and one boy with a mean age of 13.2 years (range, 9.57-15.95 years). None of the patients had paroxysmal hypertension and one had normal blood pressure. No malign pheo was identified. Mean height and weight standard deviation scores (SDS), body mass index (BMI), and BMI SDS were −0.24, 0.04, 20.9 kg/m2, and 0.20 at the time of diagnosis, and 0.03, 0.43, 23.8 kg/m2 and 0.49 1 year after operation, respectively. BMI increased significantly after operation. Three patients had normal epinephrine and metanephrine, but elevated norepinephrine and normetanephrine on 24 h urine. Vanillylmandelic acid on 24 h urine sample was elevated in all patients. Ultrasonography failed to visualize tumors in two patients with bilateral pheo. One patient had postoperative severe hypotension. Insulin resistance associated with severe acanthosis nigricans observed in one patient regressed postoperatively. Conclusions Pheo in children may present with different symptoms and findings. Decreased catecholamine in the postoperative period may lead to weight gain. [ABSTRACT FROM AUTHOR]

Presents a case of a child born with postinstinctive cleft palate and additional congenital anomalies classified as Marden-Walker syndrome. Findings noted during detailed examination; Clinical features of the child's father; Minimal criteria for the diagnosis of Marden-Walker syndrome; Evidence of paternal inheritance in the case.

Concomitant administration of meropenem has been reported to decreaseserum level of valproic acid both in humans and in animals. This reportdescribes three children who required simultaneous administration ofvalproic acid and meropenem. Meropenem rapidly decreased serum valproicacid concentration to subtherapeutic levels in all three children, andserum valproic acid levels were returned to therapeutic levels in ashort time after discontinuing simultaneous meropenem therapy. Valproicacid was not changed to another antiepileptic agent, because no seizureactivity was observed. To our knowledge, this is the first case reporton the simultaneous administration of meropenem and valproic acid inchildhood. In conclusion, it is clear that concomitant meropenem administrationdecreases serum valproic acid concentration, and we believe that theremay be no need to change the antiepileptic drug during this period,provided that the patient has no seizure. More detailed studies arerequired. Nacarkucuk E, Saglam H, Okan M. Meropenem decreases serum level of valproicacid. [Copyright &y& Elsevier]

Aim: Examination of the external genitalia is an important step in the routine child examination. Penile lengths of infants of different ethnicities show statistically significant differences. Therefore, standard values for penis sizes in healthy newborns and children in each country should be established. The aim of this study was to establish a normal range of 0 to 6 aged healthy children stretched penile length and to evaluate the relationship between stretched penis length and height. Material and Methods: This was a cross sectional observational study, carried out at tertiary university hospital in Turkey. Total of 948 healthy children aged 0-6 years were included in the study. Stretched penile length (SPL) was measured from the pubic ramus to the tip of the glans. The mean stretched penil length and Stretched penile length / height ratio for each age group were calculated and percentile curves were determined for both group. Results: The stretched penile length was 2.76 ± 0.42 cm in full-term newborns (n = 101). The SPL ranged from 2.98 ± 0.44 cm to 3.40 ± 0.56 cm in aged 1.1 to 12 months (n=309). The SPL ranged from 3.62 cm to 4.96 cm in children aged 12.1 to 72 months (n=538). There was a statistically significant correlation between mean stretched penis length and height (p=0.001). Conclusion: These data may be useful in the follow-up of healthy children. Furthermore, this study sets an example for larger-scale studies performed using older participants population in a larger geographic region. [ABSTRACT FROM AUTHOR]

Bone mineral density (BMD) and anthropometric measurements in pediatric cancer patients were evaluated and compared at early and late posttreatment periods. Sixty-six pediatric cancer patients who recovered completely following treatment longer than at least a 6-month period were included in the study. Patients were evaluated cross-sectionally and prospectively with regard to anthropometric measurements and BMD twice; the first being at a mean period of 2.62 ± 1.44 years and the second of 6.55 ± 1.71 years after the completion of treatment. Rates of osteoporosis and osteopenia at first or second evaluation were 25.8%% and 39.4%% or 10.6%% and 19.7%%, respectively. Mean BMD z-scores were (−1.26) ± 1.12 [[(−4.3)-2.0]] and (−0.48) ± 1.25 [[(−3.30)-3.40]] at first and second evaluations, respectively. BMD findings obtained at second evaluation revealed statistically significant recovery compared with those obtained at first evaluation ( P == .001). BMD z-scores were significantly lower in patients who received, as opposed to those who did not receive, radiotherapy (RT) at both evaluations. Anthropometric parameters of patients such as height, weight, and body mass index (BMI) were increased at both evaluations compared with values obtained at diagnosis ( P < .05). Height standard deviation score (SDS) decreased at first evaluation compared with that measured at diagnosis, whereas it increased at second evaluation. Conversely, weight SDS and BMI SDS increased ( P < .05) at first evaluation compared with that measured at diagnosis, whereas they decreased at second evaluation. The authors conclude that early impairments in anthropometric measurements recover in the long term, whereas BMD is continually reduced in children who recovered from cancer. [ABSTRACT FROM AUTHOR]

In this study, we report a 3-year-old boy with severe scrotal hypospadias with Robertsonian translocation [45,XY,t(13q;14q)]. The patient was born at term with a low birth weight and hypospadias. There was no endocrinological abnormality. His father also has a balanced 13–14 Robertsonian translocation. Two-stage hypospadias repair was carried out. The presence of this chromosomal anomaly and hypospadias are unique to our patient, compared to others with the 45,XY,t(13q;14q) translocation. Although no such association has been reported so far, we thought that severe hypospadias in this case might be associated with this translocation. Copyright © 2005 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background The aim of this study was to identify the sensitivity of electrocardiogram ( ECG) in early diagnosis of cardiac autonomic function disorder in children with type 1 diabetes mellitus. Methods A total of 150 children and adolescents with type 1 diabetes mellitus were enrolled between June 2009 and June 2010, as well as 100 age- and sex-matched healthy control children. Twelve-lead ECG was done in all cases and heart rate, QT and QTc interval, dispersion of P wave ( Pd), and of QT ( QTd) and QTc interval ( QTcd) were measured. The clinical and demographic features such as age, gender, duration of follow up and level of HbA1c and fasting glucose were obtained and the effects of these parameters on ECG measurements were investigated. Results The mean age of the patients and controls was 11.61 ± 3.72 years and 10.92 ± 3.2 years, respectively. QT and QTc interval and QTcd interval were significantly higher in diabetic children compared to healthy controls but these ECG findings were not associated with the duration of diabetes or glycemic state. Pd was significantly higher in the diabetic patients with HbA1c >7.5% compared to control, and this was also found in patients that were followed up >1 year. Conclusions Cardiac autonomic function disorder, which is one of the most important causes of morbidity and mortality, may emerge in the course of type 1 diabetes mellitus. It can be diagnosed on ECG even when the patients are asymptomatic. [ABSTRACT FROM AUTHOR]

Objective In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis ( TDH). Context Thyroid dyshormonogenesis comprises 10-15% of all cases of congenital hypothyroidism ( CH), which is the most common neonatal endocrine disorder, and might result from disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes ( NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have been implicated in the aetiology of the disease. Design As TDH is mostly inherited in an autosomal recessive manner, we planned to conduct the study in consanguineous/multi-case families. Patients One hundred and four patients with congenital TDH all coming from consanguineous and/or multi-case families. Measurements Initially, we performed potential linkage analysis of cases to all seven causative- TDH loci as well as direct sequencing of the TPO gene in cases we could not exclude linkage to this locus. In addition, in silico analyses of novel missense mutations were carried out. Results TPO had the highest potential for linkage and we identified 21 TPO mutations in 28 TDH cases showing potential linkage to this locus. Four of 10 distinct TPO mutations detected in this study were novel (A5T, Y55X, E596X, D633N). Conclusions This study underlines the importance of molecular genetic studies in diagnosis, classification and prognosis of CH and proposes a comprehensive mutation screening by new sequencing technology in all newly diagnosed primary CH cases. [ABSTRACT FROM AUTHOR]

Objective Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. Design Because consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inheritance and allows firmer correlations to be established between genotype and phenotype, we planned to execute our study in consanguineous families. Patients Hundred and thirty-nine children with CHNG phenotype born to consanguineous families. Measurements First, we investigated cases for evidence of linkage to the four known CHNG genes by microsatellite marker analysis. Mutation analysis by direct sequencing was then performed in those cases in whom linkage to the relevant candidate gene could not be excluded. In addition, in silico analysis of the predicted structural effects of TSHR mutations was performed and related to the mutation-specific disease phenotype. Results Homozygous germline TSHR mutations were detected in six families (5%), but no mutations were detected in PAX8, TSHB and NKX2-5. Four of TSHR mutations had not previously been described. Genotype-phenotype correlations were established and found to be related to the predicted structural effects of the mutations. Conclusions Known causative genes account for the development of CHNG only in a minority of cases, and our cohort should provide a powerful resource to identify novel causative genes and to delineate the extent of locus heterogeneity in autosomal recessively inherited CHNG. [ABSTRACT FROM AUTHOR]

The article describes the case of a 7.5-month-old boy who was diagnosed with mevalonic aciduria (MVA), an autosomal recessive disorder caused by a deficiency of the enzyme mevalonate kinase (MVK) involved in cholesterol biosynthesis. The patient was treated with anti-inflammatory treatments including canakinumab and allogeneic bone marrow transplantation from an human leukocyte antigen (HLA)-identical sibling. It also discussed the symptoms of the disease.

Abstract Background : Recently, there was a great increase in allergic reactions to latex and this brought relatively more concern to the latex allergy. In this prospective study we aimed to identify the frequency of latex allergy in preoperative patients, and tried to clarify whether it is necessary to perform latex allergy tests routinely in the preoperative period or not. Methods : A total of 188 children, aged 1-14, who were admitted for various operations, were randomly included in this study and of them, 181 completed the study. Latex specific history was taken from all patients. Latex skin prick tests, challenge tests with latex gloves, total IgE and latex specific IgE measurements were performed. Results : Of 181 children, two (1.1%) had positive latex skin prick tests. Latex challenge tests were negative in all children. Latex specific IgE was positive in 12 children (6.6%) as class II or higher, but no patient had allergic reactions in operations. History of repeated operations was a risk factor for latex sensitization. The risk was higher in the presence of both history of repeated operations and history of allergic disease. However, the risk was not higher in patients with the history of only allergic disease, compared to ones who had a history of neither repeated operations nor allergic disease. Conclusion : We conclude that routine preoperative latex allergy tests seem to be not necessary because of no allergic reactions during operation in spite of the sensitization of 6.6% detected by latex specific IgE. However, this should be investigated in larger studies. [ABSTRACT FROM AUTHOR]