Band 27, Heft 5-6

Objective: To evaluate auditory function in a group of Egyptian type 1 diabetic children. Methods: This was a cross sectional observational study, which included 40 patients with type 1 diabetes and 40 controls. HbA1, urinary albumin/creatinine ratio, and auditory assessments (including dizziness questionnaire, pure tone audiometry, speech audiometry, tympanometry, and auto-acoustic cochlear emission) were completed for all patients and controls. Mann-Whitney U-test, χ 2 -test and Spearman’s correlation were used for statistical analyses. Results: Assessment of pure tone audiometry revealed that the diabetics had a significantly higher reading in high frequency at 8000 Hz, 16,000 Hz, 17,000 Hz, and 18,000 Hz on the right side and at 4000 Hz, 8000 Hz, 16,000 Hz, 17,000 Hz, and 18,000 Hz on the left side. There was a significantly lower level in speech reception threshold, repetition of words, and masking level of diabetics on the left side. Evaluation of transient otoacoustic emission revealed that diabetics recorded significantly lower signal to noise ratio at 4000 Hz on the right side and at 1000, 1500, 4000, and all Hz on left side. There was significant lower emission amplitude in the right side of the diabetics group at 1500 and 4000 Hz and at 1000, 1500, and 4000 Hz on the left side. Patients with failed otoacoustic emission were significantly higher in disease duration >10 years. Conclusion: Type 1 diabetes is associated with high/extended high frequency hearing loss, more prominent on the left side and with longer disease duration.

Background: Lopinavir/ritonavir (LPV/r) is associated with insulin resistance (IR). We aim to determine the prevalence of IR, dyslipidemia and their inter-relationships with adipokines in HIV-infected children treated with LPV/r-based highly active antiretroviral therapy (HAART). Methods: Twenty-eight children were enrolled. Fasting glucose, insulin, lipid profiles, adipokines, and oral glucose tolerance tests were performed. Results: The prevalence of IR, pre-diabetes mellitus, and hypertriglyceridemia was 42.9(12/28), 10.7(3/28), and 75.0(21/28)% respectively. No case met the definition for diabetes mellitus (DM) and lipodystrophy. Children with IR had higher BMI z-score, triglyceride levels but unchanged leptin or adiponectin levels compared to those without IR. Longer duration of LPV/r-based HAART was associated with increased levels of triglyceride and total cholesterol. Conclusions: We describe high prevalence of IR, pre-diabetes mellitus, and dyslipidemia among HIV-infected children receiving LPV/r-based HAART. Pre-diabetes mellitus or DM or IR screening might be important for early diagnosis and intervention in these children.

Objectives: This quality improvement program examined self-reported hunger, over-eating, and eating speed in obese and normal-weight children and adolescents prior to an interventional component. Patients and Methods: Food frequency questionnaires were presented to 127 obese and 42 normal-weight patients, and perceived hunger, food intake and eating speed were rated. Results: Obese patients reported significantly greater hunger than normal-weight patients (62.2% vs. 21.4%, p<0.001) and faster eating (55.7% vs. 23.3%, p<0.001). Patients reporting being “always” or “often hungry” were more than six times likely to be obese (OR=6.49, 2.86–14.73, p<0.001), while rapid speed of eating yielded a four-fold increase in likelihood of obesity (OR=4.15, 1.77–9.72, p<0.001). Hunger and speed of eating were also highly associated (p<0.001). Conclusions: Increased hunger and eating speed were highly prevalent in these obese pediatric patients and may reflect abnormalities of satiety and satiation.

Background: The cause of hyperglycemia, a frequent disorder of glucose homeostasis in very preterm infants, is still unknown. Objectives: Determine the glucagon and insulin plasma levels at birth in healthy, appropriate for gestational age (AGA) infants born by elective cesarean section (ECS), at different gestational age. Methods: Glucagon, insulin and the homeostasis model of assessment-insulin resistance (HOMA-IR) index were measured in cord blood in 52 AGA infants divided into three groups: ≤30 weeks, very preterm (VP, n=16); 35–37 weeks, late preterm (LP, n=18); ≥38 weeks, full term (FT, n=18). Results: In all enrolled infants, Apgar score at 5 min after birth was 7 to 9. In VP infants, glucagon levels were higher than those in LP (533±116 vs. 211±28 pg/mL) (p<0.001) and FT infants (533±116 vs. 226±20 pg/mL) (p<0.001). Insulin levels were higher in VP than in LP (8.61±2.48 vs. 3.98±0.94 mU/L) (p<0.001) and FT infants (8.61±2.48 vs. 4.56±1.2 mU/L) (p<0.001). HOMA-IR index was higher in VP than in LP and FT infants (30.6±10.2 vs. 11.9±3.04 and 13.5±1.6, respectively) (p<0.001). Conclusion: We concluded that very low gestational age is associated with high glucagon plasma levels and insulin-resistance, which could explain hyperglycemia in the very preterm infants.

The relationship between thyroid function, mode of delivery, and illness in infants 34–36 weeks’ gestation has not been well studied. We hypothesized that infants born by cesarean delivery and those with increased illness would have a reduction in thyroxine (T 4 ) following birth. Total T 4 and thyroid-stimulating hormone were obtained at birth (Time 1) and between days 2 and 5 (Time 2). The study sample included 129 infants 34–36 weeks’ gestation. There were no differences in total T 4 between infants born by cesarean or vaginal delivery (p=0.18), or between those requiring respiratory support compared to infants not requiring respiratory support (p=0.09). At Time 2, 93% of the study population had a total T 4 below one standard error of the reference laboratory mean. In our study sample, despite many infants having a low total T 4 , there was no association between total T 4 levels, respiratory support, or mode of delivery.

Introduction: Vitamin D deficiency is recognized as an epidemic among children. The present study has analyzed serum 25 hydroxyvitamin D [25(OH)D] levels of children living in the city of Bojnurd, located in the North Khorasan province of Iran. Methods: In this cross-sectional study, 361 subjects (175 boys and 186 girls) aged 7–18 years participated; 25(OH)D, parathyroid hormone (PTH), and anthropometric measurements were obtained. Deficiency, insufficiency and sufficiency of vitamin D was assessed based on the relationship between 25(OH)D and PTH. Vitamin D status was reported according to gender and age group of participants. Results: The prevalence of vitamin D deficiency was 16.1% and its insufficiency was 25.2%. Girls had higher levels of vitamin D deficiency (30.6%) and insufficiency (38.7%). The mean level of serum 25(OH)D decreased in older age groups. The age-adjusted odds of serum 25(OH)D <30 was 21.12 higher in girls compared to boys. Conclusion: The prevalence of vitamin D deficiency and insufficiency was high. The ratio in girls was higher than in boys.

Objective: To evaluate asymmetric dimethyl L-arginine (ADMA), nitric oxide (NO) and cardiovascular disease in adolescent type 1 diabetics. Methods: The study included 62 type 1 diabetic patients and 30 healthy volunteers of the same age and sex. Blood samples were taken for assessment of ADMA, NO, oxidized low density lipoprotein (OxLDL), glycosylated hemoglobin, and lipid profile. Urine samples were taken for assessment of albumin/creatinine ratio. M mode echocardiography and flow mediated dilatation (FMD) via ultrasound were completed; t-test for independent variables, Pearson’s correlation, and stepwise multiple regression analysis were used. Results: The mean age of patients was 16.3±1.5 years and mean duration of diabetes was 9.4±2.9 years. Nitric oxide, ADMA and FMD were significantly lower, while OxLDL and the albumin/creatinine ratio were significantly higher in diabetics. Nitric oxide had a significant negative correlation with left ventricular end-diastolic dimension, left ventricular end-systolic dimension, posterior wall thickness, left ventricular mass, albumin/creatinine ratio, and OxLDL, as well as a positive correlation with ADMA. Albumin/creatinine ratio had a significant positive correlation with OxLDL and negative correlation with ADMA. Stepwise multiple regression analysis revealed that ADMA is the only parameter related to NO, however, albumin/creatinine ratio and OxLDL are related to ADMA. Conclusions: Type 1 diabetic patients had endothelial and diastolic dysfunction. The reduction in NO, ADMA, and elevation of OxLDL, and its relation to echocardiographic data and albumin/creatinine ratio, may reflect their role in cardiac and renal affection.

We assessed the effect of a weight management program on body weight, body mass index (BMI), BMI percentile, and fitness in obese children and adolescents. The study was designed as a longitudinal, non-randomized, clinical experience of 3, 6, and 12 months combined dietary-behavioral-exercise intervention. Seven hundred and forty-nine obese children (age, 6–16 years) participated in a 3 months program. Three hundred and fifty-nine of them completed a 6 months intervention and 147 completed a 1 year intervention. Sixty-seven age- and maturity-matched obese children who did not participate in the structured program served as controls. Body weight, BMI, and fitness were evaluated at baseline, and after 3, 6, and 12 months intervention. Body weight, BMI, and BMI percentiles were significantly reduced (p<0.05) and endurance time significantly increased (p<0.0005) following the 3 months intervention. Obese children who continued the program for 6 months maintained decreases in BMI percentiles and further improved endurance time. In contrast, obese children in the control group gained weight, increased their BMI, and had a less significant improvement in fitness. Parental obesity (both parents), degree of obesity (BMI >97%), and more than one prior weight loss attempt were associated with lower decreases, whereas sex and pubertal status had no influence, on BMI percentiles changes. Children without parental overweight had significantly greater decreases in BMI compared with children with both parents showing obesity. In summary, a combined, structured multidisciplinary intervention for childhood obesity led to decreased body weight, BMI, and BMI percentiles, and to improved fitness.

An earlier onset of puberty is associated with increased cardiometabolic risk. We investigated whether this relation was independent of faster childhood growth or current size in an Afro-Caribbean birth cohort (n=259). Anthropometry was measured at birth and then 6-monthly. Tanner staging started at age 8 years. Cardiometabolic risk factors were measured at mean age 11.5 years. In boys, pubarchal stage and testicular size were associated with lower high-density lipoprotein cholesterol, higher systolic blood pressure, and higher homeostasis model assessment of insulin resistance score, but not after adjusting for current body mass index (BMI) or rate of growth (up to age 8 years). In girls, earlier menarche and greater breast development were associated with higher fasting glucose even after adjusting for current BMI or prior growth. Pubarchal stage was associated with systolic blood pressure, even after adjusting for current BMI and prior growth. We concluded that earlier puberty is independently associated with cardiometabolic risk in girls but not in boys.

Aim: To assess prevalence and population estimates of increased risk of 25-hydroxyvitamin D [25(OH)D] deficiency and inadequacy in US children based on the current Institute of Medicine Committee to Review Dietary References Intakes for Vitamin D and Calcium guidelines. Methods: The analysis was limited to a nationally representative sample of non-institutionalized US children and adolescents aged 6–18 years who participated in the National Health and Nutrition Examination Survey completed in 2003–2006 and had complete data on 25(OH)D measurements (n=2877). The 25(OH)D levels were adjusted for assay drift and prevalence, and population estimates of increased risk of 25(OH)D deficiency (<12 ng/mL), risk of inadequacy (<16 ng/mL), and adequacy (>20 ng/mL) were calculated. Results: Overall, 4.61% of children and adolescents are at increased risk of deficiency (population estimate 2.5 million) and 10.3% are at risk of inadequacy (population estimate 5.5 million) based on the Institute of Medicine guidelines. Conclusion: Approximately 10.3% of US children aged 6–18 years (population estimate 5.5 million) have 25(OH)D levels <16 ng/mL.

Objectives: To (1) elucidate the range of serum uric acid (UA) levels in adolescent sample; (2) examine the relationships of serum UA and 1-year change with gender, anthropometric and cardiometabolic factors. Materials and methods: Measurements (anthropometrics, fasting venipuncture and blood pressure) were performed at the beginning of the seventh and eighth grades. Descriptive data, differences according to weight, correlations and changes over time were examined. Findings: In 77 adolescents, BMI and serum UA had relationships with several cardiometabolic measures. Males had higher serum UA at follow-up compared to baseline; female change was minimal. Time-by-gender interaction was significant, as were the main effects of gender and BMI classification. Males had lower HDL-C at follow-up than at baseline; females had higher HDL-C at follow-up. Conclusions: Serum UA has importance in cardiometabolic examination of youth risk factors. It should be examined in youth with elevated BMI and/or hypertension. Early adolescence is the period when gender-related metabolic changes occur.

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders with significant morbidity. The long-term implications result in immense psychological stress to the parents. This study assessing the psychological impact on the parents is a first in Sri Lanka and one of the few worldwide. Objective: Document the presence of depressive symptoms in parents of children with CAH. Design: Study participants were 37 parents of children diagnosed with CAH who were attending an endocrinology clinic of the largest children’s hospital in Sri Lanka. Centre for Epidemiological Studies-Depression scale (CES-D), a psychometrically sound scale for assessing depressive symptomatology, was used. Results: The study classified 59% of the parents as being affected, and the psychological impact on them did not reduce with time. Conclusion: Parents of children with CAH demonstrated symptoms of depression that did not abate with the passage of time.

Aim: Nonalcoholic fatty liver disease (NAFLD) is the accumulation of excess fat in the liver in the absence of alcohol consumption, which is commonly associated with obesity and increased risk of atherosclerosis as well as insulin resistance. Adropin is a recently identified protein encoded by the gene related with energy homeostasis, which is expressed in the liver and the brain and has a role in preventing insulin resistance and obesity. The aim of this study was to investigate the serum adropin and leptin levels in obese adolescents and compare the patients with, and without, NAFLD and with healthy controls. Methods: Sixty-four obese adolescents (30 with NAFLD, 34 without NAFLD) and 36 healthy controls were enrolled in the study. Serum adropin and leptin levels were evaluated by sandwich enzyme-linked immunosorbent assay. Results: Serum adropin levels were significantly lower in obese children than healthy controls (3.2±1.0 and 9.2±1.2 ng/mL, respectively, p=0.001). Serum leptin levels were significantly higher in patients than in controls (12.4±1.1 and 4.1±3.1 pg/mL, respectively; p=0.000). Serum adropin levels of patients with NAFLD were significantly lower than in patients without NAFLD (2.9±0.5 and 3.5±1.2 ng/mL, respectively; p=0.023) and healthy controls (p=0.000). Logistic regression analysis showed that a decrease in adropin levels was the only independent factor for fatty liver disease in obese adolescents (odds ratio: 3.07, 95% confidence interval 1.14–8.2, p=0.026). Leptin, relative weight and HOMA-IR of the patients were not independent risk factors for NAFLD. Conclusions: In this study, serum adropin levels were significantly lower in obese adolescents with fatty liver disease compared to patients without fatty liver disease and healthy controls. Lower adropin level was an independent risk factor for NAFLD in obese adolescents in logistic regression analysis. Assessment of serum adropin concentrations may provide a reliable indicator of fatty liver disease in obese adolescents.

Introduction: Extrathyroidal abnormality incidence and especially the incidence of congenital cardiac disease are increased with congenital hypothyroidism. In this present study, it is aimed to evaluate patients who were being followed up for congenital hypothyroidism for accompanying diseases, and to compare impacts of accompanying diseases on prognosis under the light of published articles in the literature. Material and methods: A total of 400 cases which were diagnosed with, treated and followed up for congenital hypothyroidism in our clinic were retrospectively evaluated. Cases with complaining symptoms and without any complaints, but were diagnosed with hypothyroidism as the result of screening tests were enrolled in the study. Results: Of 400 subjects included due to congenital hypothyroidism, 186 (46.5%) were girls and 214 (53.5%) were boys. Accompanying diseases were diagnosed in 113 cases (28.2%). Accompanying diseases according to the frequency order were congenital cardiac disease (n=32, 8.0%), Down syndrome (n=25, 6.3%), inguinal hernia (n=21, 5.30%), undescended testicles (n=8, 2.0%), GH deficiency (n=4, 1.0%), and some other systemic diseases (n=23, 5.8%). In cases accompanied by congenital cardiac diseases, ventricular septal defect (n=10), atrial septal defect (n=9), pulmonary stenosis (n=7), patent ductus arteriosis (n=7), and aortic coarctation (n=3) were detected. Conclusion: In this present study, it was defined that approximately one third of patients with congenital hypothyroidism had an accompanying disease, and cardiac diseases were the most common problem. It is concluded that evaluation of congenital hypothyroidism cases for accompanying diseases, detailed cardiological examination being in the first order, is important for prognosis.

α-Mannosidosis storage disease is a rare autosomal recessive disease that is caused by a deficiency of the lysosomal enzyme α-mannosidase. In this article, a proband in China was preliminarily diagnosed as having α-mannosidosis by clinical symptoms, imaging examination, and enzyme assay. Definitive diagnosis was performed by directly sequencing the MAN2B1 gDNA and cDNA of the peripheral blood leukocyte from the patient. Finally, denaturing high-performance liquid chromatography screening, conservative analysis, and protein secondary structure prediction were used to identify the novel mutation. The results showed that the patient has compound heterozygous mutations in the MAN2B1 gene, c.856G>A (p.E286K, novel) and c.788C>T (p.P263L). Her parents are heterozygote that carry one of these two mutations respectively. Pathogenicity identification of the novel mutation showed that the p.E286K mutation is a disease-causing mutation. Our work enriches the human MAN2B1 gene mutation database. As far as we know, this research is thus far the first gene diagnosis case of a Chinese patient with α-mannosidosis.

Background: Thyroid carcinoma in pediatric patients continues to be a rare albeit significant condition because local recurrence or distant metastases may be revealed during its diagnosis, or even years after completion of treatment. Methods: This study was prepared by retrospective analysis of patient files to focus on the clinical presentation of thyroid carcinoma in pediatric patients, and proposes to investigate the clinical parameters that differ from, or that correspond to, those in adult patients. Subjects: A total of 108 patients, of whom 22 were children and adolescents and 86 were adults, and who were operated on for differentiated thyroid carcinoma during the period 2001–2009, were included in the study. Results: The rate of large thyroid, multinodular goiter, or tumor >1 cm was significantly higher in the adult group than in the pediatric group. Our analysis also revealed that that the frequency of lymph node metastasis was significantly higher in the pediatric group than in the adult group. Moreover, the frequencies of total lymph node and positive lymph node presentations were significantly higher in the pediatric group than in the adult group. Conclusion: Although thyroid carcinoma has a good prognosis in young patients, one must stress that late diagnosis and ineffective treatment are the main criteria for poor prognosis and, most important, that it is advisable to keep the management of thyroid carcinoma on a path that differs from the management of adult thyroid carcinomas, in nearly all aspects from presentation to treatment.

Objective: Obesity is characterized by increased levels of plasma free fatty acids (FFAs) that interfere with insulin signaling. The aim of our study was to assess the FFA profile in obese children and adolescents and to determine their relation with different degrees of insulin resistance. Methods: A transversal study was conducted of 51 children and adolescents (mean age, 11.7±1.6 years; 47% males) with obesity (body mass index ≥95 percentile). Anthropometric, clinical, and biochemical parameters were assessed. Insulin resistance was determined using the homeostasis model assessment of insulin resistance (HOMA-IR) index. Plasma fatty acids were quantified by high-performance liquid chromatography with heptadecanoic acid as the internal standard. Results: The mean concentration of myristic acid, linoleic acid, palmitic acid, oleic acid, stearic acid, and total fatty acids was 9.3±2.2, 86.5±38.3, 93.0±35.5, 177.0±83.6, 48.5±14.9, and 414.3±160.9 μmol/L, respectively. Total fatty acids and unsaturated fatty acids such as oleic acid and linoleic acid showed an inverse significant correlation with insulin resistance. Children with high insulin resistance (HOMA-IR >2.5) showed a decrease in unsaturated fatty acids compared with children having a HOMA-IR of <2.5. There were no changes in saturated fatty acid concentrations between those groups. Conclusions: A decrease in unsaturated fatty acids was correlated with insulin resistance in childhood obesity.

Background: Currently, there is limited information on the effects of growth hormone and of the different genetic subtypes on bone mineral density (BMD) in Prader-Willi syndrome (PWS). Methods : We evaluated BMD in 79 individuals with the common subtypes of PWS (48 with deletion and 27 with UPD) and the effect of growth hormone treatment (n=46) vs. no growth hormone treatment. Results: Forty-four percent of the individuals studied had whole body, hip, or spine BMD <–1 standard deviation (SD) and 10% had a BMD <–2 SD. BMD Z-scores and total BMD (g/cm 2 ) of the spine were significantly higher in the growth hormone group. With each year of growth hormone treatment, these values increased by a factor of 0.207 and 0.011 (p=0.006 and 0.032), respectively. Individuals with uniparental disomy revealed higher spine BMD compared with deletion subclass; however, the differences were not significant. Conclusion: This study emphasizes the importance of evaluating bone mineralization in individuals with PWS and the beneficial effects of prolonged treatment with growth hormone. There was a trend for a higher BMD in individuals with uniparental disomy.

Aim: The term type 1B diabetes mellitus (T1BDM) refers tonon-autoimmune-mediated type 1 diabetes. Recent studies revealed that monogenic mutations contribute to the genetic onset mechanism of this group. In this study, nine patients with T1BDM were selected as research subjects, and the 5′ untranslated region and the exon of KCNJ11 gene were sequenced in order to study the genetic onset mechanism of T1BDM. Methods: Nine patients with T1BDM diagnosed before 3 years of age were selected as research subjects. Genomic DNA was extracted from peripheral leukocytes using standard procedures. The 5′ untranslated region and the exon of the KCNJ11 gene were sequenced using PCR-DNA assay techniques. Results: A heterozygous c.1096G>T (G366W) mutation was identified in a patient diagnosed as type 1B diabetes at the age of 19 months, and the patient’s father carried the same mutation. The genotype of the patient’s mother was normal, indicating that this mutation was autosomal dominantly inherited. No KCNJ11 mutations were found in other patients. This patient suffered only from type 1B diabetes, not accompanied with neurological developmental abnormalities. Conclusion: Monogenic mutation may be one of the main causes of early onset T1BDM. A KCNJ11 gene G366W mutation can lead to the onset of T1BDM in Chinese children. The patient with KCNJ11 G366W mutation suffered only type 1B diabetes, without neurological developmental abnormalities.

Background: Identifying adolescents with metabolic syndrome (MetS) is important in China, where diabetes and MetS is highly prevalent among adults. We aimed to estimate MetS prevalence and to determine risk factors for MetS in adolescents of northeast China. Methods: This cross-sectional study was conducted from December 2010 to March 2011. We recruited 1312 healthy students from 30 high school classes and 910 who met the inclusion criteria (13.80±1.44 years, 53.3% boys) were enrolled. All subjects underwent anthropometric and biochemical examinations. MetS was defined using the definition specific for children and adolescents proposed by the International Diabetes Federation in 2007. Results: Total prevalence of MetS was 7.6% and was higher in boys than in girls (10.9% vs. 3.8%, p<0.0001). The most frequent component of MetS was low high-density lipoprotein-cholesterol (46.8%), followed by central obesity (22.5%). More than one third of adolescents were overweight or obese. Insulin resistance, hyperuricemia, abnormal lipid profiles, increased aminotransferase, overweight, and obesity were all associated with MetS. Only overweight [odds ratio (OR)=9.29, 95% confidence interval (CI) 5.36–16.00] and obesity (OR=61.85, 95% CI 32.73–116.86) evaluated with body mass index (BMI) were independent predictors for MetS. Receiver operating characteristic curve analysis revealed that BMI had high diagnostic accuracy (area under curve value 0.914, 95% CI 0.882–0.947) and the cutoff point of 23.8 kg/m 2 had maximum accuracy for determining the presence of MetS (sensitivity 92.8%, specificity 80.1%). Conclusions: MetS is highly prevalent among adolescents in northeast China and obesity is the major indicator for this disorder. Early identification and lifestyle modifications are strongly recommended.

Neonatal diabetes mellitus is a rare clinical condition, which develops most commonly secondary to mutations in KCNJ11 and ABCC8 genes encoding ATP-sensitive K + channels. Patients are typically diagnosed with hyperglycemia-related symptoms in the first 6 months of life and rarely with ketoacidosis. In this article, we report an infant who presented with focal clonic convulsion and thereafter was diagnosed with neonatal diabetes mellitus and thrombi in cerebral venous sinus. In this patient, after a molecular analysis of the ABCC8 gene revealed a novel heterozygous missense mutation (p.D424V), a successful transition from insulin to sulfonylurea treatment was made.

12q14 microdeletion syndrome consists of the association of short stature, mental retardation, and osteopoikilosis. Since its first description in 2007, there have been <20 cases reported and each case presented variable phenotypes. We present a girl with 12q14 microdeletion that showed mental retardation and short stature but without osteopoikilosis. She also exhibited precocious puberty and growth hormone deficiency and required treatment for improving final height. This report adds further to the knowledge of the endocrinological anomalies in 12q14 microdeletion syndrome. It is important to perform growth hormone level measurements and pubertal signs to follow-up with these patients and avoid the consequential adult height worsening.

Primary adrenal insufficiency (AI) in children usually presents with non-specific symptoms such as fatigue, nausea, vomiting, and anorexia. Here, we report an unusual case of a 15 year old girl who presented with acute mental status change and was ultimately diagnosed with AI due to autoimmune polyglandular syndrome type II (APS2). Central nervous system imaging revealed a cerebral infarction. To our knowledge, the constellation of APS2, stroke and acute mental status change has not been previously reported. We review the literature with regard to the presentation of AI as well as the association between vasculitis and APS2.

Background: Antiepileptics may affect cortisol metabolism through CYP3A4. There is little known about ethosuximide. Clinical Case: Our patient is a 12-year-old girl with salt-wasting congenital adrenal hyperplasia (CAH) owing to 21 hydroxylase deficiency. A standard treatment regimen was initiated with satisfactory results until the age of 6 years, when she developed absence seizures treated with ethosuximide. She received such therapy until the age of 12 years, at which point ethosuximide was discontinued. During ethosuximide administration, she experienced worsening control of CAH disease activity that responded to progressive increases in hydrocortisone dose up to 28 mg/m 2 per day. Despite high doses of hydrocortisone, she suffered no cushingoid symptoms. Her requirements for high glucocorticoid replacement doses resolved shortly after ethosuximide was discontinued. We provide data over 6 years demonstrating a correlation between adrenal hormone secretion, cortisol requirements and ethosuximide dose. Conclusion: This is the first case demonstrating an interaction between ethosuximide and hydrocortisone clearance in the treatment of salt-wasting CAH.

MURCS (Mullerian duct aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia) association is a group of congenital genito-urinary and skeletal malformations. We report an adolescent girl with the cardinal features of MURCS association, obesity, and clinical findings of hyperandrogenism who did not show any exonic mutation of the WNT4 gene. Our finding excludes WNT4 gene as a candidate for MURCS association and suggests the need for further genetic studies.

Background: Several types of mutations in the insulin receptor gene have been identified in patients with genetic syndromes of insulin resistance. Patient report: We describe a 12-year-old girl with type A insulin resistance with hyperandrogenism, hyperinsulinemia, and diabetes mellitus but without the dysmorphic characteristic of leprechaunism or Rabson-Mendenhall syndrome. The proband’s mother had hyperinsulinemia and diabetes mellitus but did not show any common clinical features of type A insulin resistance. The proband’s brother also had hyperinsulinemia but manifested neither glucose intolerance nor common clinical features of type A insulin resistance. A novel heterozygous mutation, p.Asn1164Thr, of the insulin receptor gene ( INSR ) was identified in this family. Conclusion: These cases illustrate the diversity of clinical phenotypes associated with mutations of the insulin receptor gene.

Adrenal disorders in patients with congenital nephrotic syndrome (CNS) have seldom been reported, and the mechanisms that could explain this association are not known. The follow-up of a male infant diagnosed with CNS and primary adrenal insufficiency in his first year of life is the object of this paper.

Diabetic lipemia, although common in type 2 diabetes, is rare in type 1 diabetes mellitus. It may manifest as lipemia retinalis, eruptive xanthomas, fatty liver, and pancreatitis. We describe a 6-year-old girl diagnosed with autoimmune poly­glandular syndrome type IIIa, who presented with diabetic lipemia manifesting as eruptive xanthomas. Probable metabolic derangements causing such severe lipid abnormalities and its treatment are discussed.

Fanconi syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells, occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and children mainly present with dehydration and hypernatremia. We are reporting the first case of idiopathic Fanconi’s syndrome along with nephrogenic diabetes insipidus in a child who presented to us with vitamin D resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus (NDI) associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to to severe hypokalemia induced tubular dysfunction.