OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION.

Introduction: Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS. Case report: The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers' diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth. Conclusion: Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.

Serum nesfatin-1 and leptin levels in non-obese girls with premature thelarche.

AIM: We aimed to investigate serum nesfatin-1 level in girls with premature thelarche (PT) and its relationship with anthropometric parameters and leptin, which are involved in the initiation of pubertal process. SUBJECTS-METHODS: Non-obese girls who presented with the complaint of early (2-8 years) and isolated breast development were included in the study. The control group consisted of age-matched healthy prepubertal girls. Auxological measurements were performed in all subjects. Gonadotropin-releasing hormone (GnRH) stimulation test and bone age assessment were conducted in subjects with early breast development. Girls with a bone age/chronologic age ratio <1.2 and a peak luteinizing hormone (LH) response to GnRH stimulation <5 mIU/L were included in the PT group. RESULTS: The study included 22 non-obese girls with PT and 24 healthy prepubertal controls. Body mass index (BMI), BMI-standard deviation score (SDS) and height SDS were similar between the groups (p > 0.05). Serum leptin and nesfatin-1 levels were found significantly higher in the PT group compared to controls (p < 0.05). No correlation was detected between nesfatin-1 and basal LH, basal follicle stimulating hormone (FSH), stimulated peak LH, peak FSH, leptin levels and anthropometric parameters in the PT group (p > 0.05). CONCLUSION: Results of the present study showed that serum nesfatin-1 and leptin levels are significantly higher in girls with PT than in prepubertal controls. This finding suggests that similar to leptin, nesfatin-1 may also have a central or peripheral role in the initiation of pubertal process and may be related to PT pathogenesis.

Evaluation of the effects of insulin resistance on ECG parameters in obese children.

OBJECTIVE: Obese people are at increased risk of arrhythmia and sudden death, even in the absence of heart dysfunction. Increased insulin resistance, neurohumoral and autonomic changes in obesity can cause atrial and ventricular repolarization abnormalities. This study aimed to investigate the effect on ventricular repolarization parameters and to show the increased risk of ventricular arrhythmia in obese children. PATIENTS AND METHODS: The data of 50 obese children aged 2-18 who applied to the Pediatric Endocrinology Outpatient Clinic were evaluated prospectively. In 12-lead ECGs, heart rate, Pmax, Pmin, P-wave dispersion (Pwdisp), QTmax, QTmin, QT dispersion (QTd), QTcmax, QTcmin, QTc interval dispersion (QTcd), Tpeak-Tend interval (Tp-e), Tp-e/QT, Tp-e/QTc were calculated electronically. RESULTS: Tp-e time (0.041 ± 0.004/0.049 ± 0.015/p=0.018) and Tp parameters were measured in obese children with and without insulin resistance. Tp-e/QT ratio was also found to be high (p=0.035). There is a negative correlation between BMI SDS values and QTcmax and QTcmin values in patients with insulin resistance (p=0.015). CONCLUSIONS: In our study, the Tp-e interval and Tp-e/QT ratios, which had been revealed in literature to be more sensitive in demonstrating ventricular arrhythmias, were found to be higher in obese individuals with insulin resistance than in those without insulin resistance. Obese individuals with or without insulin resistance should be carefully evaluated in terms of atrial and ventricular depolarization and repolarization parameters with 12-lead ECG during their outpatient controls, and annual 24-hour Holter control should be performed to detect arrhythmias.