Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association.

Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS.

Investigation of autoimmune diseases accompanying Hashimoto's thyroiditis in children and adolescents and evaluation of cardiac signs.

OBJECTIVE: In the present study, it was aimed to investigate the concomitance of additional cardiac problems, mainly mitral valve prolapse, in adolescents and pediatric patients with Hashimoto's thyroiditis, by screening autoimmune markers. MATERIALS AND METHODS: Fifty-seven euthyroid patients, who applied to the Pediatric Endocrinology clinic at our institution with marked symptoms of hypothyroidism at the time of diagnosis, and were diagnosed and treated for Hashimoto's thyroiditis, were included in the present study. All patients were evaluated by performing non-organ specific autoantibodies which could be tested at our institution, thyroid ultrasonography, two-dimensional echocardiography, and 24-h holter monitorization. RESULTS: Of the 57 cases with Hashimoto's thyroiditis, 48 (84.2%) were female, and nine (15.8%) were male. In the echocardiographic evaluation, mitral valve problems were detected in 10 (17.5%) of all cases; mitral valve prolapse was diagnosed in eight (seven females and one male) cases, and mitral insufficiency was diagnosed in two female cases. First-degree atrioventricular block was observed in only two patients during 24-h holter monitorization. Different non-organ specific autoantibody positivity was distributed as antinuclear antibody in 15 (26.3%) cases, anticardiolipin IgG in two cases, anticardiolipin IgM in three cases, tissue transglutaminase IgA in one, glutamic acid decarboxylase in one, anti-insulin antibody in four cases, antiphospholipid IgG in one, and antiphospholipid IgM in one case. CONCLUSION: It should be underlined that patients with Hashimoto's thyroiditis should to be followed up closely for mitral valve prolapse and accompanying autoimmune diseases.

Urinary C-Peptide/Creatinine Ratio Can Distinguish Maturity-Onset Diabetes of the Young from Type 1 Diabetes in Children and Adolescents: A Single-Center Experience.

BACKGROUND: The urinary C-peptide/creatinine ratio (UCPCR) and fasting C-peptide level can assess beta-cell function in clinical practice. In the present study, the use of the UCPCR and fasting C-peptide levels was investigated in the differential diagnosis between maturity-onset diabetes of the young (MODY) and type 1 diabetes mellitus (T1DM). METHODS: Twenty-seven patients with genetically confirmed MODY by next-generation sequence analysis and 42 children with T1DM were included. C-peptide levels were measured after an overnight fast before breakfast, and urine samples were collected 2 h after a standard lunch in the hospital. RESULTS: The UCPCR in the T1DM group was 0.17 ± 0.5 nmol/mmol, and in the MODY group it was 1.27 ± 1.03 nmol/mmol (p = 0.001). The receiver operating characteristic (ROC) curves showed excellent discrimination (area under the curve 0.93). A UCPCR ≥0.22 nmol/mmol yielded a 96.3% sensitivity and an 85.7% specificity. The fasting C-peptide level in the T1DM group was lower than that in the MODY group (p = 0.001). The fasting C-peptide cutoff determined by ROC curve analysis was 0.62 ng/ml, with a sensitivity of 93% and a specificity of 90% for discriminating between MODY and T1DM. CONCLUSIONS: We showed that the UCPCR and fasting C-peptide levels in children and adolescents can distinguish patients with MODY from patients with T1DM with high specificity and sensitivity. A value of UCPCR ≥0.22 nmol/mmol may indicate further genetic testing for MODY.

An uncommon cause of hypoglycemia: insulin autoimmune syndrome.

BACKGROUND: Insulin autoimmune syndrome (IAS) is a condition characterized by hypoglycemia associated with the presence of autoantibodies to insulin in patients who have not been injected with insulin. CASE REPORT: A female patient (aged 16 years and 3 months) presented with the complaint of being overweight. Physical examination revealed a body weight of 78.2 kg (+2.6 SD) and a height of 167 cm (+0.73 SD). While the patient's fasting blood glucose level was found to be 40 mg/dl, blood ketone was negative and the serum insulin level was determined as 379 mIU/ml. The patient was diagnosed with hyperinsulinemic hypoglycemia. Abdominal ultrasound, pancreas MRI and endoscopic ultrasound were normal. The daily blood glucose profile revealed postprandial hyperglycemia and reactive hypoglycemia in addition to fasting hypoglycemia. The results of anti-insulin antibody measurements were as high as 41.8% (normal range 0-7%). A 1,600-calorie diet containing 40% carbohydrate and divided into 6 meals a day was given to the patient. Simple sugars were excluded from the diet. Hypoglycemic episodes were not observed, but during 2 years of observation, serum levels of insulin and anti-insulin antibodies remained elevated. CONCLUSION: In all hyperinsulinemic hypoglycemia cases, IAS should be considered in the differential diagnosis and insulin antibody measurements should be carried out.

A girl with steroid cell ovarian tumor misdiagnosed as non-classical congenital adrenal hyperplasia.

Ovarian steroid cell tumors are rarely encountered in prepubertal girls. The majority of these tumors produce hormones, testosterone being the leading one. These tumors may either coexist with or imitate congenital adrenal hyperplasia (CAH). We present a 13-year-old female patient who was diagnosed with non-classical CAH at six years of age while being investigated for premature pubarche. She was diagnosed with steroid cell ovarian tumor after a delay of six years. The diagnosis was based on radiologic imaging, which was performed to investigate causes of unsuccessful metabolic control while under high-dose steroid therapy. The right ovarian hypoechoic mass of 23x22 mm was excised laparoscopically, preserving the ovary. Immunohistochemical staining showed that tumor cells were strongly positive with inhibin and focally positive with vimentin. Based on these findings, the patient was diagnosed with ovarian steroid cell tumor not otherwise specified. In the postoperative second week, total testosterone level was <10 ng/ml, and 17 hydroxyprogesterone (17-OHP) level was 1.1 ng/ml. Peak 17-OHP level was 4.2 ng/ml on repeated ACTH stimulations, and the diagnosis of CAH was excluded. Steroid therapy was tapered down and then discontinued. It should be kept in mind that there may be a misdiagnosis in cases of CAH, which may present itself with unsuccessful metabolic control even while under the appropriate treatment dose. Early diagnosis and treatment would prevent the development of irreversible signs.

Peroxisome proliferator activated receptor (PPAR)-gamma concentrations in childhood obesity.

BACKGROUND: Peroxisome proliferator-activated receptors (PPARs) are nuclear proteins that regulate transcriptional responses to peroxisome proliferators. There has been limited research concerned with the childhood expression of these receptors. In this study, we aimed to evaluate PPAR-gamma (PPAR-γ) concentrations and their relationship to body mass index (BMI), ratio of waist and hip, blood pressure levels, insulin resistance and lipid profile in obese children and adolescents. SUBJECTS AND METHODS: Children aged 8-16 years old were included in the study; 44 obese children and 25 healthy children were taken into the study. Blood pressure and waist-hip circumference of obese patients were measured. Following a 12-hour nighttime fasting, venous blood samples were taken, including blood glucose, insulin, lipid profile, liver function tests and PPAR-γ concentrations, and all samples were analyzed at the same time. FINDINGS: PPAR-γ concentrations were 0.226 + 0.128 in obese children and 0.547 + 0.546 in the control group. PPAR-γ concentrations were lower in obese children and this difference was statistically significant (p = 0.008). PPAR-γ concentrations of control children were 2.42-fold higher than obese children. There was a negative correlation between PPAR-γ concentrations and waist circumference, and a positive correlation between birth weight and PPAR-γ concentrations in obese children. CONCLUSION: In our study we found that PPAR-γ concentrations were low in obese children. In adults, treatment modalities aimed at enhancing the activation of PPAR in obesity lead to a decrease in obesity, insulin resistance, dyslipidemia and cardiovascular disease and this gives hope that similar treatment modalities can be used for children.

Prevalence and long-term follow-up outcomes of testicular adrenal rest tumours in children and adolescent males with congenital adrenal hyperplasia.

OBJECTIVE: There are a few studies regarding the prevalence of testicular adrenal rest tumours (TARTs) in boys and adolescent males with congenital adrenal hyperplasia (CAH), and there is little information regarding the treatment outcomes in patients with TARTs. The aim of this study was to determine the long-term treatment outcomes in boys and adolescent males with CAH. PATIENTS AND METHODS: Sixty boys and adolescent males with CAH, who were between 2 and 18 years of age, were included in the study. Fifty-five patients had 21-hydroxylase deficiency (21-OHD), and five patients had 11-ß hydroxylase deficiency (11ß-OHD). All patients were screened for TARTs by scrotal ultrasonography (US) performed by an experienced radiologist. RESULTS: TART prevalence was 18·3% in 2-18 years' of age; eight patients had 21-OHD, and three had 11ß-OHD. The youngest patient with TART was 4 years old, whereas eight patients with RTs were at puberty. Only two patients had tight metabolic control: eight patients had stage 2, one had stage 4, and two had stage five rest tumours. In four patients with stage 2 TARTs, tumours disappeared after high-dose steroid treatment and did not recur. Shrinkage of tumour was observed in two patients. Testis-sparing surgery was performed in one patient with stage five tumour. Gonadal functions were normal in patients with partially regressed tumours. Two patients became fathers of healthy male off-springs. CONCLUSIONS: Detection and treatment for TARTs in children with CAH at younger ages, earlier stages, may prevent infertility in adulthood. Therefore, we recommend that scrotal US screening should be performed in every 1-2 years starting from early childhood.