Elif Sagsak

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 patients 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.

The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases.

Abstract Vitamin D intoxication in infancy has serious consequences attributable to acute hypercalcemia and subsequent hypercalcuria or nephrocalcinosis. Traditonal treatment methods is inadequate in some patients with severe hypercalcemia due to vitamin D intoxication. Our experience suggests that bisphosphonates may be an effective and reliable drug in the treatment of severe and persistant hypercalcemia.

Subclinical left ventricular systolic and diastolic dysfunction in type 1 diabetic children and adolescents with good metabolic control

Cardiac dysfunction is a well‐known consequence of diabetes mellitus. This study was designed to assess whether type 1 diabetic children and adolescents with good metabolic control have early echocardiographic signs of subclinical left ventricular dysfunction and whether diabetes duration has any influence, using conventional and nonconventional echocardiographic tools.

Comparison of anterior segment parameters in juvenile diabetes mellitus and healthy eyes

Purpose To compare the anterior segment parameters of patients with juvenile diabetes mellitus (DM) and healthy children by optical biometry. Methods This prospective controlled clinical trial included 47 patients with juvenile type 1 DM and 50 age- and sex-matched healthy children. Central corneal thickness (CCT), aqueous depth (AD), lens thickness (LT), axial length, pupillary diameter (PD), K1 and K2 keratometry, and white to white distance (WTW) measurements were performed with optical biometry. The glycosylated hemoglobin (HbA1c) levels of the DM cases were obtained. Kolmogorov-Smirnov test, t test, χ2 test, and Pearson correlation test were used for statistical analysis. Results The mean age of the 20 boys and 27 girls with DM was 10.91 ± 3.24 years and the mean age of the 29 healthy boys and 21 girls was 11.61 ± 3.6 years (age p = 0.42; sex p = 0.09). The mean LT was thicker (p = 0.001), the mean AD was lower (p = 0.001), and the mean PD was smaller (p = 0.001) in the DM cases and all were statistically significant. There was no significant difference between the groups for AU, CCT, WTW, or K1 and K2 (p = 0.12; p = 0.83; p = 0.54; p = 0.97; p = 0.21, respectively). We also found a significant negative correlation between HbA1c levels and PD (r = −0.37 p = 0.01). Conclusions Juvenile DM may affect anterior segment parameters and cause thicker LT, smaller PD, and lower AD. These effects may change the refractive status and should be considered during the examination of these children.

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.

The description of a new case with proopiomelanocortin (POMC) deficiency: an increasingly important diagnosis to make.

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to a homozygous c.206delC mutation in the POMC gene. We discuss the pathogenesis of this condition with emphasis on the crosstalk between hypothalamic and peripheral signals in the development of obesity and the POMC-melanocortin 4 receptors system as a target for therapeutic intervention.

17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene.

Abstract 17α-Hydroxylase/17-20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. Genetic defects causing combined 17OHD lead to the impaired production of cortisol and sex steroids, accumulation of mineralocorticoids, and compensatory overproduction of pituitary adrenocorticotropic hormone. Consequently, individuals with this enzymatic defect present with both adrenal cortical hyperplasia and variable degrees of hypertension, hypokalemia, and sexual immaturity. The patient was aged 15 years and 3 months and she was diagnosed with 17OHD while she was being evaluated for complaints of delayed puberty. In the present case, p.Y27*(c.81C>A) mutation was revealed in the sequence analysis of the CYP17A1 gene. The same mutation was reported in a 20-year-old Turkish girl in Germany, who was investigated for delayed puberty in 2005. The previous case was reported to be normotensive and normokalemic. The presence and differences in the severity of hypertension in cases with the same mutation and total enzymatic deficiency may indicate that genes predisposed to hypertension, obesity due to genetic and environmental factors, and some other factors may play a role in the clinical presentation of hypertension.

Primary Amenorrhea Secondary to Mullerian Anomaly

Mullerian developmental anomalies are rare causes of primary amenorrhea in 46, XX adolescent girls. The aim to report this case is that Mullerian anomalies should be considered between the differential diagnosis of primary amenorrhea to prevent the delaying of the diagnosis. A 15 year-old female patient presented with a complaint of not menstruating. Medical history revealed an appendectomy at the age of 9 years, and surgical intervention due to a right para-ovarian hemorrhagic cyst at the age of 12 years. Apelvic Magnetic Resonance Imaging (MRI) evaluation revealed two uteri, one of which was rudimentary. Normal-sized uterus was not continued byvaginal lumen; however, the rudimentary uterus was connected with vaginal lumen. A hemorrhage to peritoneal cavity was suspected by pediatric endocrinologist and referred to gynecologist and radiologist for detailed investigation. It was concluded that the previously excised cyst might be bleeding into the peritoneal cavity as a result of menstruation. Then, the patient was scheduled for surgery.

Incidence of Type 1 Diabetes in Children Aged Below 18 Years During 2013-2015 in Northwest Turkey

Objective: To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9, 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6%) were girls and 911 (51.4%) were boys. The mean age at diagnosis was 9.2±4.2 years and it was not significantly different between girls (9.0±4.1 years) and boys (9.4±4.4 years) (p=0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/100.000 respectively. The incidence of T1DM was similar over the course of three years (p=0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.

AMH levels in girls with various pubertal problems

Abstract Background: Anti-Müllerian hormone (AMH) is produced by granulosa cells surrounding follicles that have undergone recruitment from the primordial follicle pool but have not been selected for dominance (preantral and early antral follicles). In healthy girls, serum levels of AMH vary considerably between individuals. We aimed to evaluate the AMH level in girls with premature thelarche (PT) and central precocious puberty (CPP). Methods: Girls with CPP (n=21), PT (n=24) and a control prepubertal group (n=22) were included in the study. Results: AMH levels were significantly higher in the PT group than the prepubertal control group and similar to the CPP group. AMH levels in the CPP group were similar to the prepubertal control group. AMH levels showed a significant negative correlation with luteinizing hormone (LH), free testosterone and dehydroepiandrosterone sulphate (DHEAS) levels in the PT group. AMH levels were negatively correlated with height standard deviation score (HSDS), body mass index (BMI) SDS values and positively correlated with sex hormone binding globulin (SHBG) levels in the CPP group. These levels were positively correlated with SHBG levels in the control prepubertal group. Conclusions: Serum AMH levels in girls with PT was found to be higher than in prepubertal girls. AMH levels in the CPP group were not different compared with the PT and control groups.