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Introduction: Recurrent epistaxis is a common medical problem faced by ENT specialists, emergency physicians, and pediatricians. The facts that many treatment modalities are being searched and no single treatment method is universally accepted yet support this information. Objective: We aimed to compare the clinical efficacy of topical antiseptic ointment, topical decongestant ointment and chemical cauterization treatments, which are frequently used in recurrent anterior epistaxis, both singly and in combination. Material-methods: Between August 2017 and February 2018, 137 patients who were diagnosed with recurrent anterior epistaxis were randomly divided into 5 groups. group I received topical antiseptic ointment, group II received topical decongestant ointment, group III received chemical cauterization, group IV received topical antiseptic ointment + chemical cauterization and group V received topical decongestant ointment + chemical cauterization treatment. All patients were phoned 2 weeks and 1 month after the treatment and questioned about the presence (failure) or absence (success) of at least 1 episode of epistaxis. Patients with comorbid diseases were excluded. Treatment success was statistically analysed. Results: There was no significant difference (p > 0.05) between the groups in the success rate at 15th day after treatment. Group IV and group V had higher success rates at 30th day after treatment compared with group I and group II (p 0.05). Conclusion: Although the number of patients who improved with chemical cauterization (group III) was higher in our study, no significant difference was observed in single treatment modalities (group I‒III) at 14th day and 30th day after treatment. Although no statistically significant difference was observed between combined treatments (group IVV) and single treatments (group I‒III) in the 2nd week after treatment, combined treatments were significantly more effective in the 1st month.

Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of >= 32 gestational weeks and >= 1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+ 17-OHP)/F of >= 0.7 (increased from >= 0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11 %) required second-tier testing and 880 (0.36 %) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11 beta-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100 %). The incidence of classical 21-OHD and 11 beta-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11 beta-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.

Background The olfactory bulb (OB) and eyeball size change depending on age and puberty. There is a well-established trade-off between sensory structures of the brain such as the eye and the olfactory bulb that depend on environmental circumstances in the evolutionary history of animals. The aim of this study was to developmentally investigate the potential reciprocal changes between OB and eyeball volumes (EV) in girls with precocious puberty (PP). Methods A total of 148 girls aged between 5 and 8 years (63 PP, 85 healthy) were included in the study. Exclusion criteria: Cases of anosmia/hyposmia, neurodegenerative disorder, refractive errors and trauma. The pituitary height (PH), EV and OB volumes were measured on segmentation of a magnetic resonance image (MRI) slice using manual countering. The corrected measurements by body surface were used in all statistical analyses. Results In girls with PP, the means of the OB volume and PH were larger (71.11 ± 20.64 mL) and higher (4.62 ± 1.18 mm), respectively, while the mean of EVs was smaller (11.24 ± 2.62 cm3) (p = 0.000). Cut-off values were 62.27 mL, 10.7 cm3 and 4.71 mm for OB volume, EV and PH, respectively. While negative correlations were found between OB volume-EV and EV-PH (r63 = −0.224, p = 0.001 and r63 = −0.116, p = 0.001, respectively), OB volume was positively correlated with PH (r63 = 0.578, p = 0.001). Conclusions The present study demonstrates that girls with PP have significantly larger OB volume, but smaller EV, and there is negative correlation between the two structures. These results indicate that there is trade-off between anatomical dimensions of OB and eyeball in favor of OB in PP girls.

There is conflicting data regarding the role of transforming growth factor-β1 (TGF-β1) in the pathogenesis of airway hyper-reactivity and asthma exacerbation.To investigate the role of exhaled-TGF-β1 in exercise-induced bronchospasm (EIB) in asthmatic and nonasthmatic healthy children, and in asthma exacerbation and asthma control.The exhaled-TGF-β1 levels of 56 stable asthmatic children and 15 nonasthmatic healthy children were evaluated before and 30 min after an exercise challenge. The exhaled-TGF-β1 levels of 20 additional children with asthma exacerbation were evaluated.While no significant difference in the exhaled-TGF-β1 levels was found at the baseline, exhaled-TGF-β1 levels after the exercise challenge were significantly higher in the non-EIB (Our results suggest that TGF-β1 may play a role in suppressing airway reactivity and its deficiency is associated with asthma exacerbation.

Although it is known that there is generally a good correlation between genotypes and phenotypes, the number of studies reporting discrepancies has recently increased, exclusively between milder genotypes and their phenotypes due to the complex nature of the CYP21A2 gene and methodological pitfalls. This study aimed to assess CYP21A2 genotyping in children with 21-hydroxylase deficiency (21-OHD) and establish their predictive genotype–phenotype correlation features using a large cohort in Southeastern Anatolia’s ethnically diverse population. The patients were classified into three groups: salt-wasting (SW), simple virilizing (SV) and non-classical (NC). The genotypes were categorized into six groups due to residual enzyme activity: null–A–B–C–D–E. CYP21A2 genotyping was performed by sequence-specific primer and sequenced with next generation sequencing (NGS), and the expected phenotypes were compared to the observed phenotypes. A total of 118 unrelated children with 21-OHD were included in this study (61% SW, 24.5% SV and 14.5% NC). The pathogenic variants were found in 79.5% of 171 mutated alleles (60.2%, 22.2%, and 17.6% in SW, SV and NC, respectively). Patient distribution based on genotype groups was as follows: null—16.1%, A—41.4%, B—6.0%, C—14.4%, E—22%). In2G was the most common pathogenic variant (33.9% of all alleles) and the most common variant in the three phenotype groups (SW—38.8%, SV—22.2% and NC—23.3%). The total genotype–phenotype correlation was 81.5%. The correlations of the null and A groups were 100% and 76.1%, respectively, while it was lower in group B and poor in group C (71.4% and 23.5%, respectively). This study revealed that the concordance rates of the severe genotypes with their phenotypes were good, while those of the milder genotypes were poor. The discrepancies could have resulted from the complex characteristics of 21-OHD genotyping and the limitations of using NGS alone without integrating with other comprehensive methods.

Background Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and nonclassic 11βOHD (NC-11βOHD). Objective To characterize a multicenter pediatric cohort with 11βOHD. Method The clinical and biochemical characteristics were retrospectively retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. Results 102 patients (C-11βOHD, n = 92; NC-11βOHD, n = 10) from 76 families (46,XX; n = 53) had biallelic CYP11B1 mutations (novel 9 out of 30). Five 46,XX patients (10%) were raised as males. Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [−1.85 SD score (SDS)] and male 160.4 cm (−2.56 SDS).None of the NC-11βOHD girls had ambiguous genitalia (C-11βOHD 100%), and none of the NC-11βOHD patients were hypertensive (C-11βOHD 50%). Compared to NC-11βOHD, C-11βOHD patients were diagnosed earlier (1.33 vs 6.9 years; P 2.2, Conclusion NC-11βOHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11βOHD.

BACKGROUND/AIM Biotin is a vital micronutrient that plays a role in metabolic homeostasis and the regulation of innate and adaptive immune system functions. Biotinidase deficiency (BTD) leads to impairment in biotin-dependent immune functions. This study focused on immunophenotypic analysis of lymphocyte subsets in newborns with BTD. PATIENTS AND METHODS A total of 181 (95 female and 86 male; 114 had BTD and 67 were healthy) newborns underwent biotinidase enzyme activity, molecular and lymphocyte immunophenotyping analyses. BTD is classified into four biochemical phenotypes: profound, partial, heterozygous and normal. The following lymphocyte subsets were studied in all participants: total B lymphocyte (CD19), total T lymphocyte (CD3), helper T lymphocyte (CD3/CD4), cytotoxic T lymphocyte (CTL) (CD3/CD8), natural killer T lymphocyte (CD16/56) and a T-lymphocyte activation marker (HLA-DR). RESULTS The percentages of lymphocyte subsets were similar in newborns with and without BTD. In all newborns with BTD, the mean CD3/CD4 levels were higher in females, while the CD3/CD8 levels were higher in males (P

Etiology of ISSNHL includes cessation of vascular perfusion, viral infection and cochlear membrane injury. Precise location of injury should be defined for a target-oriented treatment. Vestibular complaints in ISSNHL are hypothesized as involvement of vestibule. Vestibular complaints can be either due to involvement of inner ear or neural tract at any level.In the present study we aimed to demonstrate involvement of vestibular organs in the absence of vestibular symptoms. It was aimed to evaluate superior and inferior vestibular neural pathways.c-vemp and o-vemp were applied to patients suffering ISSNHL without vertigo. Pure tone averages, audiogram configurations, degree of hearing loss were analyzed. Latencies of P1 and N1 waves, amplitudes of P1-N1 waves were evaluated. Asymmetrical vemp wave patterns were compared between two ears regarding difference of PTA.Latencies of c-vemp waves were longer and amplitudes were smaller. o-vemp parameters were similar on both sides. Positive correlation was observed between c-vemp latencies and degree hearing loss.Inferior vestibular nerve pathway is affected in the absence of vertigo in ISSNHL with spared superior vestibular nerve pathway. Damage in IVN pathway correlates with degree of ISSNHL.

Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence and severity of neurological symptoms, are as follows: type I, non-neuronopathic (95%); type II, acute neuronopathic; and type III, chronic neuronopathic. Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms. In such cases, homozygous D409H is the most frequently detected mutation. In this article, we report the case of a patient, aged 15 years and 8 months, with complaints of syncope and a diagnosis of type IIIC Gaucher disease.

Context The clinical effects of classical 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency are insufficiently defined due to a limited number of published cases. Objective To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3βHSD2 deficiency. Design Multicenter, cross-sectional study. Setting Nine tertiary pediatric endocrinology clinics across Turkey. Patients Children with clinical diagnosis of 3βHSD2 deficiency. Main Outcome Measures Clinical manifestations, genotype-phenotype-metabolomic relations. A structured questionnaire was used to evaluate the data of patients with clinical 3βHSD2 deficiency. Genetic analysis of HSD3B2 was performed using Sanger sequencing. Novel HSD3B2 mutations were studied in vitro. Nineteen plasma adrenal steroids were measured using LC-MS/MS. Results Eleven homozygous HSD3B2 mutations (6 novel) were identified in 31 children (19 male/12 female; mean age: 6.6 ± 5.1 yrs). The patients with homozygous pathogenic HSD3B2 missense variants of > 5% of wild type 3βHSD2 activity in vitro had a non-salt–losing clinical phenotype. Ambiguous genitalia was an invariable feature of all genetic males, whereas only 1 of 12 female patients presented with virilized genitalia. Premature pubarche was observed in 78% of patients. In adolescence, menstrual irregularities and polycystic ovaries in females and adrenal rest tumors and gonadal failure in males were observed. Conclusions Genetically-documented 3βHSD2 deficiency includes salt-losing and non-salt–losing clinical phenotypes. Spared mineralocorticoid function and unvirilized genitalia in females may lead to misdiagnosis and underestimation of the frequency of 3βHSD2 deficiency. High baseline 17OHPreg to cortisol ratio and low 11-oxyandrogen concentrations by LC-MS/MS unequivocally identifies patients with 3βHSD2 deficiency.

Aim Although newly diagnosed type 1 diabetes mellitus (T1DM) occurs sporadically in childhood, there is an increased risk of T1DM for first-degree relatives of patients that endure into the advanced years. Determination of T1DM incidence in siblings of children with T1DM helps predict the development of new cases. This study focuses on the incidence of the disease in siblings of children with T1DM. Method A total of 1497 siblings of 850 children (403 female; 447 male) diagnosed with T1DM between 2007 and 2018 years were retrospectively screened for T1DM. The patients were divided into four onset age groups: 0-4, 5-9, 10-14 and ≥15. The annual incidence was calculated for the region. Results A total of 34 siblings diagnosed with T1DM were detected. The incidence relating to the years investigated was between 7.42 and 11.73/100 000 for the newly diagnosed indexes while it ranged between 0 and 5.8% for siblings. The 5-9 year group was the most commonly diagnosed onset age group in index (n = 312) and siblings (n = 20). For siblings, the male sex and 5-9 aged at diagnosis of index were significant risk factors for development of T1DM (OR:2.35 and 2.85). Conclusion This study shows that in the first years following the diagnosis of an index, incidence of T1DM among the siblings can rise up to 5.8%, and the age group of 5-9 in the index and the male sex in the sibling are the most important risk factors. These findings show that the risk for siblings of children with T1DM remarkably increases in the first years after diagnosis in index cases.

Introduction: Renal artery pseudoaneurysm is a well-described complication of open and laparoscopic partial nephrectomy. Delayed bleeding from a renal artery pseudoaneurysm is rare after open partial nephrectomy. Case description: Here, we present a 75-year-old man who, 14 days after undergoing an open right partial nephrectomy for an endophytic 4.5 cm tumor, developed painless macroscopic hematuria. Prompt computer tomography angiography imaging, followed by therapeutic angio-embolization of segmental renal artery with coils, treated the pseudoaneurysm successfully. Conclusion: Renal artery pseudoaneurysm can be treated rapidly, effectively, and with minimal patient morbidity via percutaneous renal artery embolization.

The anti-inflammatory effect of high-dose inhaled corticosteroids (ICS) in children with asthma exacerbation is unknown. We aimed to investigate the efficacy of single-high dose ICS versus oral prednisone treatment followed by a course of six day high-dose ICS or oral prednisone (P) treatment on the concentrations of Cys-LTs and 8-isoprostane levels in the exhaled breath condensate (EBC) of children with asthma exacerbation.Ninety-four children with moderate-severe asthma exacerbation were evaluated with asthma scores, peak expiratory flow rate (PEF), forced expiratory volume in first second (FEV1) and exhaled Cys-LT and 8-isoprostane levels before and after treatment. EBC was collected from 52 patients before and four hours after treatment with inhaled fluticasone propionate (FP) (4000 μg) or P and after six days of treatment with FP-1000 μg/day or P. Cys-LTs and 8-isoprostane concentrations were determined using a specific immunoassay kit.Both single high-dose FP (n=59) and p (n=35) treatment resulted in a significant improvement in asthma score (p0.0001), PEF (p0.0001), and FEV1 (p0.0001). Cys-LT concentration in the EBC decreased significantly both after the initial treatment (p=0.001), and at the end of the six-day period in the FP group (p0.0001). 8-Isoprostane concentration was lower only after six days of treatment with FP-1000 μg/day in the FP group (p=0.023). There was a significant decrease in exhaled Cys-LTs after four hours (p=0.012) and six days of P treatment (p=0.018) in children with asthma exacerbation.High-dose ICS treatment may be useful in the treatment of children with asthma exacerbation. The effects start as early as after four hours. The suppression of Cys-LTs production contributes to the early effects. Suppression of both Cys-LTs and oxidants may favourably contribute to the effects observed later.

Hereditary angioedema (HAE) is characterised by recurrent episodes of angioedema and can be fatal.The present study aimed to screen HAE.A total of 60 individuals were screened. The frequency and severity of symptoms were scored from 0 to 8. Measurements were taken of C4 and C1 esterase inhibitor protein (C1-INH) levels. Mutation in the C1 inhibitor gene was examined in 9 patients with HAE.A positive correlation between the C1 esterase inhibitor protein levels and C4 level was detected in the group as a whole (p0.001, r = 0.725, n = 60). Anegative correlation between the C1 esterase inhibitor protein level and severity score was observed in the whole group (p0.001, r = -0.486, n = 60). A negative correlation was also detected in the entire group between the C4 level and severity score (p = 0.002, r = -0.389, n = 60). In the patients with HAE, a positive correlation between the C1 esterase inhibitor protein level and C4 levels was detected (p = 0.034, r = 0.705, n = 9). A heterozygous c. 601AT nonsense variant was identified at the C1 esterase inhibitor gene-SERPING1-in patients with Type 1 HAE.It is well known that there is a prolonged delay in the diagnosis of HAE. The present study demonstrates that it is very important and even life-saving to screen for HAE on the basis of an index case.

Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocrine organs. These autoantibodies are responsible for the dysfunction of the affected organs and sometimes may also cause non-endocrine organ dysfunction. The hemolytic-uremic syndrome (HUS) is a serious and life-threatening disease which develops due to many etiological factors including autoimmune disorders. Here, we present an unusual case of APS. Ectodermal dysplasia with immune deficiency and HUS occurred concomitantly in the same patient with APS type 3c. Once the autoantibody generation was initiated in the human body, development of multiple disorders due to organ dysfunction and also autoantibody-related diseases may have occurred.

Background: There is a mutual dynamic interaction between thyroid volume (TV), insulin-like growth factor-1 (IGF-1), and body mass index (BMI). These covariates undergo a change with the transition into puberty. The heterogeneity of the variates and study populations complicate the evaluation of the role of pure pubertal effect. Objective: The purpose of this study was to investigate the effect of puberty on IGF-1 and TV in a predetermined homogenous population such as obese children. Subjects and Methods: Three hundred and eighty children (202 girls and 178 boys) aged between 6 and 18 were enrolled in this prospective study. The children were assigned to two groups according to their pubertal status, i.e., prepubertal (n = 169) and postpubertal (n = 211). According to age and sex, the obese group (n = 222) was made up of children at and above the 95th percentile, and the control group (n = 158) of children under the 85th percentile. The following parameters were evaluated in all children: BMI, pubertal status, TV, and serum IGF-1, IGFBP-3, and IGF-1:IGFBP-3 molar ratio. Results: In comparison to the prepubertal obese group, the obese group at Tanner stage 2 had a larger mean TV (P = 0.008) and higher IGF-1 level (P = 0.033). There was a positive correlation between IGF-1 and TV both in the prepubertal and pubertal group (r169= 0.369, P = 0.001; r211= 0.316, P = 0.004, respectively), whereas there was no correlation between IGF-1 and BMI (r169= 0.99, P = 0.092; r211= 0.094, P = 0.088, respectively). Conclusion: This study showed that the TV and serum IGF-1 levels were increased in obese children in the early stage of puberty and that there was a positive correlation between these two variables in all children, which shows the specific effect of the early stage of puberty on the increase in TV and IGF-1 levels and suggests that increased TV is associated with the increase in IGF-1 levels in a homogenous group such as obese children.

Although head trauma is common in childhood, there is no enough prospective study investigating both acute phase and 12 months after injury. Therefore, a prospective clinical trial was planned to evaluate the pituitary function in childhood in the acute and chronic phase after traumatic brain injury (TBI)., Abstract PURPOSE: Although head trauma is common in childhood, there is no enough prospective study investigating both acute phase and 12 months after injury. Therefore, a prospective clinical trial was planned to evaluate the pituitary function in childhood in the acute and chronic phase after traumatic brain injury (TBI). METHODS: Forty-one children (27 boys and 14 girls, mean age 7 ± 4.3), who were admitted to neurosurgery intensive care unit due to head trauma, were included. Twenty-one (51.2 %) patients had mild, 10 (24.4 %) had moderate, and 10 (24.4 %) had severe TBI. Twenty-two of them were reevaluated 12 months after TBI. Basal pituitary hormone levels were measured during acute (first 24 h) and chronic phase of TBI. Additionally, in the chronic phase, GHRH-arginine test was used for the diagnosis of growth hormone (GH) deficiency. RESULTS: In the acute phase, 10 patients (24.4 %) had ACTH deficiency, and the overall 44.3 % of patients had at least one pituitary hormone dysfunction. All the pituitary hormone deficiencies during the acute phase were recovered after 12 months. Two patients (9.1 %) had new-onset GH deficiency in the chronic phase, and in one of them, ACTH deficiency was also present. CONCLUSIONS: Present prospective data clearly demonstrated that most of the hormonal changes in the early acute phase were transient, suggesting an adaptive response, and these changes did not predict the hormone deficiencies after 1 year. In the chronic phase, although GH deficiency was present, the frequency of TBI-induced hypopituitarism was clearly lower than the adult patients. &nbsp

Background and objective: To determine the prevalence and the clinical significance of thyroid autoantibodies and their influence on treatment response in children with idiopathic thrombocytopenic purpura (ITP). Patient and Method: We retrospectively analyzed the antithyroglobulin (anti-TG) and antithyroid peroxidase (anti-TPO) antibodies from the records of 151 ITP patients who were admitted to the Pediatric Hematology Department of Gaziantep University between 2009 and 2012. Results: Anti-TPO and/or anti-TG was found positive in 38 (36.8%) of 103 patients whose thyroid autoantibody levels were measured. The comparison of positivity ratios of autoantibodies between acute and chronic ITP patients showed no significant difference. However, the separate comparison of each group of ITP patients with control group showed significantly high positivity ratios of autoantibodies in ITP patients. The initial mean platelet count of anti-TPO positive patients at diagnosis was significantly less than that of the negative patients (P = .008). One month after treatment, platelet count of anti-TPO positive patients was significantly less than that of the negative patients (P = .01). Moreover, the mean platelet counts of anti-TPO positive patients were significantly less than those of the negative patients after intravenous immunoglobulin treatment (P < .001). Conclusion: We demonstrated that the thyroid-autoimmune-diseasesrelated autoantibodies are frequently found in childhood ITP. Although no recommendation is found in international guidelines regarding screening for thyroid autoantibodies in patients with ITP, in view of the high incidence of antithyroid antibodies and their potential negative effect on treatment response, screening these patients for such antibodies would be recommended.

Objective: The aim of this study was to determine the frequency of HLA DR-DQ haplotypes in children with type 1 diabetes mellitus (T1DM) in the Southeast Region of Turkey. Methods: Eighty children and adolescents with T1DM and eighty control subjects participated in the study. HLA-DR, DQ was typed using polymerase chain reaction and sequence-specific priming technique. Results: HLA DRB1*03 allele was significantly more common in patients than in control subjects. HLA DRB1*11, HLA DRB1*13 and HLA DRB1*14 allele frequencies were significantly lower in patients than in controls. DQB1*02 allele was more common in patients, whereas DQB1*03 allele was more frequent in control subjects. HLA DRB1*03-DQB1*02 haplotype was more frequently observed among patients. Conclusion: These results confirm the similar potential trends in the frequency distribution of HLA susceptibility genes with T1DM previously observed in Turkey and in other Caucasian populations. Conflict of interest:None declared.

The aim of our study is to investigate whether systemic microvascular function affects the development and prognosis of sudden idiopathic hearing loss (SHL).A prospective case-control study.Fifty patients diagnosed with SHL at our hospital between September 2015 and May 2016 were included as the SHL group, and 50 healthy volunteers who came to the hospital for medical screening were included in the control group. Thirty-one patients from the SHL group who responded to treatment and 19 patients who did not respond to treatment were identified according to the Siegel criteria and were grouped. Patients with comorbid disorders were excluded from the study. To determine microvascular function, the videocapillaroscopic examination was conducted from the nailfold, measuring the capillary density (CD) and post-occlusive reactive hyperaemia (PORH) values and statistical analysis was performed between the groups.While CD was an average of 83.1 ± 6 in the SHL group, it was measured as 96.2 ± 10 in the control group. The CD value was significantly lower in the SHL group than the control group (P0.05). While the average PORH value in the SHL group was 80.5 ± 7.7, it was measured as 97.5 ± 10 in the control group. The PORH value was significantly lower in the SHL group than the control group (P0.05). The CD value did not differ significantly (P0.05) between the group that responded to treatment (83.4 ± 5.5) and the group that did not respond to treatment (82.7 ± 6.9). The PORH value was significantly lower (P0.05) in the group that did not respond to treatment (75.2 ± 7.9) than the group that did (83.8 ± 5.6).To our best knowledge, our study is the first study in the literature. Although the role of specific mechanisms in SHL is not entirely understood, the capillaroscopic examination can show the importance of microvascular function in SHL. CD and PORH values were found to be low in SHL patients, and a low PORH value was found to be a factor of poor prognosis.

ABALI, SAYGIN/0000-0001-6552-2801; Gurbuz, Fatih/0000-0003-2160-9838; Hatun, Sukru/0000-0003-1633-9570; Abaci, Ayhan/0000-0002-1812-0321; Turan, Serap/0000-0002-5172-5402; Buyukinan, Muammer/0000-0002-2937-823X; yuksel, bilgin/0000-0003-4378-3255; Ozgen, Ilker Tolga/0000-0001-6592-9652; binay, cigdem/0000-0002-7749-8818; ozkan, Behzat/0000-0002-9153-8409; Demir, Korcan/0000-0002-8334-2422; Eren, Erdal/0000-0002-1684-1053 WOS: 000373099300016 PubMed: 26788866 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

The cardiovascular autonomic nervous system in obese children is one of the main initiators of coronary heart disease and hypertension and may have a close relationship with insulin resistance. Heart rate variability is one non-invasive method to assess the cardiovascular autonomic system. In this method, low frequency parameters reflect sympathovagal activity, high frequency parameters reflect vagal activity and the ratio of these parameters reflects sympathovagal balance.In this study, a short-term analysis of heart rate variability was conducted in 66 obese children and 40 healthy controls.While high frequency parameter values are lower in the obese group compared to the controls (16.02 ± 12.9 nu vs. 21.45 ± 13.6 nu, p = 0.046), the low frequency/high frequency ratio is found significantly higher (3.79 ± 2.34 vs. 2.25 ± 0.93, p 〈 0.001). A significant difference was not detected for the low frequency values (p = 0.787). Insulin resistance was found in 33 (50%) patients, dyslipidemia was found in 39 (59%) and hypertension was found in 18 (27%). Metabolic syndrome was detected in 39% patients in the obese group.We found that vagal activity was decreased in the obese group and the autonomic nervous system balance was impaired in favor of sympathetic activity in the short-term heart rate analysis.

Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known.In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved.These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

WOS: 000360842500004, PubMed: 26831551, 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., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).

WOS: 000351307200006, PubMed ID: 25800474, Objective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practices in diagnosis and treatment of GHD in different centers in Turkey. Methods: A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers. Results: Twenty-four centers returned the questionnaire. The most frequently used GH stimulation test was L-dopa, followed by clonidine. Eighteen centers used a GH cut-off value of 10 ng/mL for the diagnosis of GHD; this value was 7 ng/mL in 4 centers and 5 ng/mL in 2 centers. The most frequently used assay was immunochemiluminescence for determination of GH, insulin-like growth factor-1 and insulin-like growth factor binding protein-3 concentrations. Sex steroid priming in both sexes was used by 19 centers. The most frequently used starting dose of recombinant human GH (rhGH) in prepubertal children was 0.025-0.030 mg/kg/day and 0.030-0.035 mg/kg/day in pubertal children. Growth velocity was used in the evaluation for growth response to rhGH therapy in all centers. Anthropometric measurements of patients every 3-6 months, fasting blood glucose, bone age and thyroid panel evaluation were used by all centers at follow-up. Main indications for cessation of therapy were decreased height velocity and advanced bone age. Fourteen centers used combined treatment (rhGH and gonadotropin-releasing analogues) to increase final height. Conclusion: Although conformity was found among centers in Turkey in current practice, it is very important to update guideline statements and to modify, if needed, the approach to GHD over time in accordance with new evidence-based clinical studies.

WOS: 000351307200005, PubMed ID: 25800473, 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.

Advanced oxidation protein products (AOPP) are considered reliable markers to estimate the degree of oxidant-mediated protein damage. Data on oxidative stress in childhood obesity and insulin resistance are limited.The aim of this study was to investigate the AOPP level as an oxidative stress marker in obesity and insulin resistance. The study included 57 pubertal obese children and adolescents (30 girls and 27 boys) and 20 healthy pubertal children and adolescents (11 girls and 9 boys).All participants in the obesity group underwent an oral glucose tolerance test (OGTT) and two separate groups were formed according to the existence of insulin resistance.AOPP levels were measured in the obesity and control groups spectrophotometrically. The obesity group consisted of 25 children and adolescents with insulin resistance and 32 subjects without insulin resistance. AOPP levels in the obesity group were found to be significantly higher than those in the control group. Although AOPP levels in the subjects with insulin resistance were higher than the subjects without insulin resistance, there was no significant difference between AOPP levels of subgroups with insulin resistance and without insulin resistance.This study showed protein oxidation in obesity with a novel oxidative stress marker and it also suggests that insulin resistance may play an important role as a source of oxidative stress in the development of other diseases after pubertal years.

Sialic acid is a terminal component of the non-reducing end of carbohydrate chains of glycoproteins and glycolipids. The purpose of this study was to estimate serum total sialic acid (TSA) concentrations and serum TSA/serum total protein (TP) ratios in young type 1 diabetic subjects and to investigate their association with diabetes-related parameters in that population. Twentyfour young type 1 diabetic patients and 20 healthy controls were enrolled in this study. Serum TSA and serum TSA/TP ratio were measured in both groups. Moreover, we looked for correlation among serum TSA, serum TSA/TP ratio and clinically relevant parameters such as urinary albumin excretion, blood pressure, diabetes duration, HbA1c, daily insulin dose, serum lipids and magnesium in type 1 diabetic patients. Serum TSA concentrations and serum TSA/TP ratio showed no statistical difference between patients and controls (p > 0.05). While serum TSA concentrations only correlated with urinary albumin excretion (r=0.44, p=0.028), serum TSA/TP ratio correlated with diastolic blood pressure (r=0.48, p=0.015), diabetes duration (r=0.46, p=0.022) and urinary albumin excretion (r=0.53, p=0.007) in the diabetic subjects. We concluded that serum TSA/TP ratio might be a better indicator than serum TSA as an index of diabetic complications.

Aim: The purpose of this study was to examine the possible association of Hashimoto's thyroiditis (HT) with Sydenham's chorea (SC). Materials and Methods: A total of 25 SC patients and 25 patients with the diagnosis of HT were included in the study. Neurological, cardiac, radiological abnormalities, clinical findings, and biochemical analysis were evaluated. Results: Heart murmur as a result of mitral valve deformation was present in all SC group patients. No neurologic and cardiac abnormalities were noted in HT group. Serum thyroid-stimulating hormone (TSH), anti-thyroid peroxidase, and anti-thyroglobulin levels were found to be high in 4 patients of the SC group and called as SC with HT group. Significant elevation of serum TSH levels in SC with HT group (31.75 ± 3.71 μU/ml) was observed when compared to HT group (12.60 ± 4.24 μU/ml, p < 0.05). Conclusion: These results showed that HT can be occured among the patients with SC with cardiac involvement.

OBJECTIVE: To assess levels of vitamin D and of immunoglobulin G subclasses in children and adolescents with type 1 Diabetes Mellitus with or without autoimmune thyroiditis. DESIGN: Among 213 patients with type 1 diabetes, the cases with thyroid-specific autoantibodies formed Group 1 [n=19, M/F: 7/12, median age 13 years (10.1-14.7)]. Nineteen age-, gender-, and diabetes duration-matched cases with type 1 diabetes without any other systemic disease were designated as controls [Group 2, M/F: 7/12, median age 12.9 years (10.5-14.9)]. RESULTS: Levels of thyroid hormones, vitamin D, total IgG and IgG subclasses, as well as IgG subclasses/total IgG ratios were similar between the groups. Five cases (26%) in Group 1 had IgG4 levels > + 2 SDS, whereas there were no such cases in Group 2 (p=0.046). These five patients had similar clinical features but higher median IgG4 levels and IgG4/Total IgG ratios compared to the subjects with IgG4 levels < + 2 SDS in Group 1 and Group 2. CONCLUSIONS: There was no difference of vitamin D levels between the groups. Only a small percentage of patients with type 1 diabetes also having autoimmune thyroiditis had elevated serum IgG4 levels, revealing the heterogeneity of autoimmune thyroiditis and existence of IgG4 thyroiditis in the pediatric age group. Total IgG, the other IgG subclasses, and vitamin D levels did not differ in patients with autoimmune thyroiditis and type 1 diabetes compared to those suffering only from type 1 diabetes.

Hyperinsulinism of infancy is a major cause of persistent hypoglycaemia in the newborn period. Transient mild self-limiting hyperinsulinaemia and hypoglycaemia have been described in neonates born to mothers taking ritodrine therapy for premature labour. Ritodrine crosses the placental barrier and enters the fetal circulation readily but the mechanism of how it causes hyperinsulinaemia and hypoglycaemia is unclear. We report the case of severe prolonged hyperinsulinaemic hypoglycamia in a neonate born to a mother taking ritodrine therapy from 16 weeks' gestation for preterm labour. The hyperinsulinaemic hypoglycaemia was managed with oral nifedipine as diazoxide was contraindicated due to fluid overload. Possible mechanisms of ritodrine-induced hypo glycaemia and insulin secretion are discussed. Copyright (C) 2005 S. Karger AG, Basel.

Objective: Adiponectin, leptin, and resistin are adipokines which play a significant role in the regulation of lipid and carbohydrate metabolism in patients with type 2 diabetes, while little is known about their role in type 1 diabetes mellitus (T1DM). The aim of this study was to measure serum adiponectin, leptin, and resistin levels and to investigate their relationships with some parameters in patients with T1DM and healthy controls. Methods: Fifty children and adolescents with T1DM (21 boys and 29 girls) and 33 healthy control subjects (18 boys and 15 girls) participated in the study. All subjects were patients followed in the Pediatric Endocrinology and Metabolism Unit of Gaziantep University Faculty of Medicine. None of the subjects had hypertension, obesity, hyperlipidemia, anemia, or infection. Adiponectin, leptin, and resistin levels were analyzed with ELISA. Results: There were no statistically significant differences related with age, sex, pubertal status, or body mass index distribution between the diabetic and control groups. Resistin levels were significantly higher in the diabetic group compared to controls (5.26±3.15 ng/mL vs. 3.50±1.26 ng/mL; p

Recent studies have demonstrated a role for calcium channel blocking agents in the treatment of persistent hyperinsulinemic hypoglycemia of newborns. We report a newborn infant with persistent hyperinsulinemic hypoglycemia whom we successfully treated with oral nifedipine alone after surgical therapies. A 4-day-old male infant was referred with intractable hypoglycemia and seziures. Normoglycaemia could be maintained only by the intravenous infusion of glucose at a rate of 20 mg/kg per minute. Persistent hyperinsulinemic hypoglycemia of newborn was diagnosed from an inappropriately raised plasma insulin concentration (44 mU/L) at the time of hypoglycemia. Medical treatments led to only a mild reduction in the intravenous glucose requirement; an 85-90% pancreatectomy was performed and histological "diffuse nesidioblastosis" was confirmed. However, despite all the medical treatments after the first pancreatectomy, the hyperinsulinemic hypoglycemia persisted and a second 95% pancreatectomy was performed. After the second pancreatectomy, persistent hyperinsulinemic hypoglycemia was treated with somatostatin and diazoxide, but led to no reduction in the intravenous glucose requirement. We report the case of an infant who had persistent hypoglycemia after two subtotal pancreatic resections but subsequently became normoglycemic on treatment with nifedipine (2 mg/kg per day). The patient was discharged home on oral nifedipine. Calcium channel blocking agents cuold be used with efficacy and safety in recurrent persistent hyperinsulinemic hypoglycemia.

Exhaled breath condensate (EBC) is a completely non-invasive method for the collection of airway secretions to measure intense inflammation in the airways of asthmatics. It has been shown that the childhood asthma control test (c-ACT) is a good tool for use in the evaluation of asthmatics. Whether the c-ACT score and asthma control level correlate with the airway inflammation is not well known. We aimed to evaluate the relationship between exhaled cysteinyl leukotrienes (Cys-LTs) and 8-isoprostane levels and asthma severity, asthma control level and c-ACT score in asthmatic children.Thirty asthmatic children were evaluated with c-ACT score and pulmonary function tests. Asthma severity and asthma control level were assessed according to GINA. EBC was collected and Cys-LTs and 8-isoprostane concentrations were determined using a specific immunoassay kit.Exhaled 8-isoprostane level in patients with moderate persistent asthma [114 (55-146)pg/ml] was higher than in the mild persistent group [52 (21-91)pg/ml] (p=0.05, Mann-Whitney U [MWU]). EBC 8-isoprostane in children with 1-4 asthma exacerbations/year [52 (16-80)pg/ml] was significantly lower than in children with4 asthma exacerbations/year [114 (57-129)pg/ml] (p0.05, MWU). No significant relation was determined between exhaled 8-isoprostane and Cys-LTs levels and c-ACT score and asthma control level. Exhaled 8-isoprostane correlated negatively with bronchodilator response (p=0.015, r=-0.45).Exhaled 8-isoprostane, as an oxidative stress specifier, was found to be increased in relation with asthma exacerbation frequency and oxidative stress increases with the severity of asthma. In contrast to asthma severity level, c-ACT score and asthma control level may not reflect airway inflammation.

Despite the universality and clinical significance of exercise-induced bronchospasm (EIB), the mechanisms responsible for it are incompletely understood.To investigate the role of exhaled RANTES (regulated on activation, normal T-cell expressed and secreted) and interleukin (IL) 4 in EIB in children with asthma.Fifty-six children with asthma were evaluated with exercise challenge and exhaled RANTES and IL-4 levels. Exhaled breath condensate was collected before and 30 minutes after exercise challenge. RANTES and IL-4 concentrations were determined using a specific immunoassay kit.A significant increase was found in RANTES levels after exercise challenge in the asthmatic children (P.001). A statistically significant increase in RANTES levels was noted after exercise challenge in both the asthmatic children with EIB (n=25, P=.007) and in the non-EIB asthmatic group (n=31, P=.005). Our study revealed that exhaled RANTES level correlates significantly well with percentage of forced expiratory volume in 1 second (FEV1), exacerbation frequency, serum IgE, and body mass index. No statistically significant increase was found in IL-4 levels after exercise challenge. The maximal postexercise decrease in FEV1 strongly correlated with total eosinophil count (P.001, r = -0.61) and baseline ratio of FEV1 to forced vital capacity (FVC) (P=.002, r=0.40). Results from multivariate regression analysis adjusted for age, sex, and atopy as covariates showed that eosinophil count and FEV1/FVC ratio were significantly associated with EIB.We found that exercise challenge, leading to hyperosmolar stimulus, may increase exhaled RANTES levels in children with asthma. In addition, exhaled RANTES levels correlate well with serum IgE, severity of asthma, FEV1/FVC ratio, and body mass index. RANTES and IL-4 may not be independent predictors for EIB. Furthermore, eosinophil count and FEV1/FVC ratio may predict the presence and severity of EIB in asthmatic children.

Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families. In this case, we report a 5-month-old boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia. The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent.

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease characterized by anemia, hemoptysis and recurrent alveolar hemorrhage. The combination of IPH and celiac disease (CD) is extremely rare. We report a 9-year-old boy with Lane-Hamilton syndrome, co-occurrence of pulmonary hemosiderosis with CD. This presentation is unique presentation because he has also retinal pigmentation.

To examine the effect of carbamezapine and valproate on bone mineral density (BMD), IGF-I and IGFBP-3 levels in children.The effects of at least 2 years valproic acid and carbamazepine therapy on BMD were evaluated in a cross-sectional and retrospective study. All children were ambulatory, prepubertal, and had normal activity and nutritionally adequate diets. Ambulatory epileptic patients were divided into two groups. Thirty-three patients (group 1; 17 boys, 16 girls; mean age: 8.8 +/- 2.0 years) were treated with valproic acid and 33 patients were treated with carbamazepine (group 2; 20 boys, 13 girls; mean age: 9.7 +/- 1.6 years). The control group consisted of 22 healthy children (13 boys, 9 girls; mean age: 8.9 +/- 2.3 years), who were age- and sex-matched with the patient groups. Children with metabolic bone disease, growth and neurological impairment, signs of malnutrition, or any chronic disease were excluded from the study.BMD values at lumbar spine in both the carbamazepine (-1.69 +/- 0.85 mean L1-4 BMD z-scores, mean 35.5 +/- 12.8 months treatment, and 19,478.6 +/- 6,301.3 mg/kg cumulative dose) and valproic acid (-1.28 +/- 0.80 mean L1-4 BMD z-scores, mean 33.7 +/- 15.0 months treatment, and 22,852.4 +/- 12,477.4 mg/kg cumulative dose) groups were significantly lower than that of the control group (-0.23 +/- 0.87 mean L1-4 BMD z-score). Serum ALP and PTH levels were significantly higher in the carbamazepine-treated group (65.4 +/- 21.1 pg/ml, 767 +/- 267 U/l, respectively) than those of the valproic acid-treated (39.1 +/- 12.8 pg/ml, 561 +/- 166 U/l, respectively) and control groups (36.3 +/- 4.9 pg/ml, 487 +/- 82 U/l, respectively). Serum 25-hydroxyvitamin D of the carbamazepine-treated group (9.8 +/- 3.2 microg/l) was significantly lower than the other groups (15.1 +/- 3.5, 16.6 +/- 4.7 microg/l, respectively). There were eight and 13 patients with plasma intact PTH above reference values in groups 1 and 2, respectively. Valproic acid and carbamazepine therapy results in a hyperparathyroid state and altered vitamin D metabolism, respectively.BMD values at lumbar spine were significantly reduced in both carbamezapine and valproic acid treated groups. Valproic acid and carbamazepine therapy do not change IGF-I and IGFBP-3 levels. Altering the hepatic conversion of vitamin D may be the mechanism of carbamazepine-associated reduction in BMD, but the mechanism of decreased BMD in valproate therapy remains unclear.

Hypertrichosis in a newborn girl infant of a diabetic mother with congenital hypothyroidism is reported. Both neonatal hyperinsulism and increased testosterone levels were documented. The hypertrichosis resolved after 3 months' of thyroxine replacement treatment. The possible causal association between hypothyroidism, and hypertrichosis has not been previously reported in neonatal period. Thyroid function should be evaluated in all newborn babies with hypertrichosis or abnormal distribution of body hair.

A 7-month-old male infant was referred to our hospital for evaluation of his facial puffiness. He had a history of prolonged physiological jaundice during the neonatal period. His mother reported that he had cried hoarsely and become sleepy and lethargic during the months immediately prior to his referral. The infant weighed 8100 g (10th–25th percentile), was 63 cm long (10th–25th percentile) and had a head circumference of 43.5 cm (25th–50th percentile). He had a thick and broad tongue, the bridge of the broad nose was depressed and he had hoarse voice. Examination of his mental and motor development showed retardation. The results of the laboratory tests, all abnormal, are given in Table 1. After 1 month of replacement treatment, the mother complained of hair loss by the infant. Physical examination revealed a diffuse loss of scalp hair, especially at the temporal and occipital regions. Hair regrowth was apparent after 4 months.

We report five-year-old girl with female pseudohermaphroditism due to classical form of 21-hydroxylase deficiency associated with Turner's syndrome (45,X/46,XX) and insulin resistance. She had clitoromegaly since birth, but Turner's syndrome and 21-hydroxylase deficiency were diagnosed incidentally at one and five years of age, respectively. Moreover, we determined insulin resistance, which resolved following corticosteroid therapy for disease. We regard the rare combination as a coincidental occurrence. We stress that adrenal function should be assessed, at least in the presence of clitoral enlargement, in patients with Turner's syndrome, particularly if their karyotype does not contain a Y chromosome. We conclude that chronic hypersecretion of androgen precursors due to an inborn error of metabolism can induce a reduction in insulin sensitivity. Improvement in insulin resistance after treatment of hyperandrogenism has not been previously reported.

A case is described of a three-day-old female with salt wasting type of 21-hydroxylase deficient congenital adrenal hyperplasia who presented with acanthosis nigricans of both axillae. Following corticosteroid and mineralocorticoid therapy for disease, the acanthosis nigricans resolved. It is believed that this is the first reported case of acanthosis nigricans occurring in association with congenital adrenal hyperplasia, a phenomenon that resolved after treatment. We speculate that the acanthosis nigricans resulted from hyperandrogenemia or other unknown factors in our patient.

Objective. Simple fasting methods to measure insulin resistance, such as the homeostasis model assessment (HOMA), fasting glucose/insulin ratio (FGIR), and quantitative insulin sensitivity check index (QUICKI) methods, have been widely promoted for adult studies but have not been evaluated formally among children and adolescents. The aim of this study was to compare the HOMA, FGIR, and QUICKI methods for measuring insulin resistance, expressed by oral glucose tolerance test (OGTT) results, among obese children and adolescents. Methods. Fifty-seven pubertal obese children and adolescents (30 girls and 27 boys; mean age, 12.04 ± 2.90 years; mean BMI: 29.57 ± 5.53) participated in the study. All participants underwent an OGTT. Blood samples were obtained 0, 30, 60, 90, and 120 minutes after oral glucose administration for glucose and insulin measurements, and 2 separate groups were studied, according to the presence or absence of insulin resistance. HOMA, FGIR, and QUICKI methods were studied for validation of insulin resistance determined with the OGTT for these groups. Results. The groups consisted of 25 obese children and adolescents with insulin resistance (14 girls and 11 boys; mean age: 12.88 ± 2.88 years; mean BMI: 31.29 ± 5.86) and 32 subjects without insulin resistance (16 girls and 16 boys; mean age: 11.38 ± 2.79 years; mean BMI: 28.23 ± 4.94). There were significant differences in the mean HOMA (6.06 ± 4.98 and 3.42 ± 3.14, respectively) and QUICKI (0.313 ± 0.004 and 0.339 ± 0.004, respectively) values between the 2 groups. Sensitivity and specificity calculations based on insulin resistance with receiver operating characteristic curve analysis indicated that HOMA had high sensitivity and specificity for measuring insulin resistance. Conclusions. As a measure of insulin resistance among children and adolescents, HOMA is more reliable than FGIR and QUICKI. The present HOMA cutoff point for diagnosis of insulin resistance is 3.16. The HOMA cutoff point of >2.5 is valid for adults but not for adolescents.

In this prospective study we investigated the frequency of vulvovaginal candidiasis, the results of yeast cultures and detection of ketoconazole resistance in female children and adolescents with type 1 diabetes mellitus (DM1). The study consisted of 35 patients with DM1 (age 1.7-20 years) and 22 controls (age 1.5-18 years). Age, duration of DM1 and evidence of genital symptoms were recorded initially. After a pelvic examination, two separate swabs and samples for blood glucose and hemoglobin A1c (HbA1c) were taken. One of the swabs was used for direct examination and the second was placed on Sabouraud's dextrose agar and incubated. In vitro susceptibility of Candida species to ketoconazole was established by using Etest (AB B1ODISC). Candida species were isolated in 32 of 61 (52.5%) swabs of patients with DM1 and five of 22 (18.2%) of the control group. The predominant Candida species isolated from patients with DM1 were C. albicans (72.7%), C. glabrata (22.7%), C. tropicalis (2.3%), and C. parapsilosis (2.3%). The mean HbA1c in diabetic patients from whom Candida species were isolated was significantly higher than that of patients without Candida infection (p = 0.002). Most of the C. glabrata isolates were significantly resistant to ketoconazole. During the follow-up of patients with DM1, genital candidiasis is generally overlooked. It should not be forgotten that species other than C. albicans might cause genital candidiasis.

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations are rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. The clinical diagnosis of syndrome X defines a patient with abnormal glucose metabolism, hypertension, hyperlipidemia and obesity. We report here a 15 year-old girl with BBS presenting with syndrome X.