In recent years, the increase in interest and use of vitamin D has been attributed mainly to the extra-skeletal effects of vitamin D and confusion about normal reference values for serum 25-hydroxy vitamin D (25-OHD). However, The Institute of Medicine, which determines daily intake of nutrients, vitamins and minerals in the United States, emphasizes that there is no additional benefit of having a 25-OHD level above 20 ng/mL in terms of parathyroid hormone suppression, calcium absorption and “fall risk”. Taking into consideration that there has not been a significant increase in vitamin D deficiency and related conditions in Turkey over the past five years, it is not hard to suppose that this increased interest is due to doctors, using mass media platforms, who have made claims that vitamin D is a “panacea”. This paper aims to answer some frequently asked questions such as the threshold values recommended for the evaluation of vitamin D status, the clinical indications for measuring 25-OHD and suggestions on the use of lifelong vitamin D starting from pregnancy.

Objective: Insulin is an important hormone for intrauterine growth. Irisin is an effective myokine in the regulation of physiological insulin resistance in pregnancy. Leptin and insulin are associated with fetal growth and fetal adiposity. In this study, we aimed to investigate the relationships between irisin, insulin and leptin levels and maternal weight gain, as well as anthropometric measurements in the newborn.
Methods: Eighty-four mothers and newborns were included in the study. Irisin, leptin and insulin levels were measured in the mothers and in cord blood. Anthropometric measurements in the newborn, maternal weight at the beginning of the pregnancy and at delivery were recorded.
Results: Birth weight were classified as small for gestational age (SGA), appropriate for gestational age (AGA) and large for gestational age (LGA). There was no difference in irisin levels among the groups. Leptin and insulin levels were found to change significantly according to birth weight (p=0.013, and p=0.012, respectively). There was a negative correlation between the anthropometric measurements of the AGA newborns and irisin levels. This correlation was not observed in SGA and LGA babies. Leptin levels were associated with fetal adiposity.
Conclusion: While irisin levels are not affected by weight gain during pregnancy nor by birth weight, they show a relationship with anthropometric measurements in AGA infants. These results may lead to the understanding of metabolic disorders that will occur in later life.

Objective: This meta-analysis was performed to evaluate the efficacy and safety of continuous subcutaneous insulin infusion (CSII) vs. multiple daily injections (MDI) in children with type 1 diabetes.
Methods: A literature search was conducted on databases including PubMed and Embase up to June 2017. The pooled weighted mean difference or risk ratio as well as 95% confidence intervals were calculated using RevMan 5.3 software.
Results: Eight studies involving 310 children with type 1 diabetes were included. Results showed that HbA1c (%) was significantly lower (p=0.007) after CSII compared with MDI in children with type 1 diabetes. In addition, there was no significant difference between groups in HbA1c (%) change, total daily insulin doses, change of total daily insulin doses and incidence of ketoacidosis and severe hypoglycemia. However, subgroup analyses indicated that age, treatment duration and study design were influenced the efficacy of CSII and MDI in children with type 1 diabetes.
Conclusion: CSII is associated with lower HbA1c levels in children with type 1 diabetes but appears to have no effect on insulin requirement or incidence of ketoacidosis and severe hypoglycemia.

Objective: Symptomatic hypoparathyroidism [symptomatic hypocalcemia without elevated serum parathyroid hormone (PTH)] in patients with thalassemia is relatively rare. Asymptomatic mild hypocalcemia without elevated PTH, which is considered hypoparathyroidism, may be more common but under-recognized.
Methods: Sixty-six transfusion-dependent thalassemic patients and 28 healthy controls were enrolled. Serum calcium (Ca), phosphate (P), creatinine (Cr), albumin, intact PTH, 25-hydroxyvitamin D (25-OHD), plasma intact fibroblast growth factor-23 (FGF-23), urinary Ca, P and Cr were measured. Tubular reabsorption of P was calculated.
Results: Thalassemic patients had significantly lower median serum Ca levels than the controls [8.7 (7.8-9.7) vs 9.6 (8.7-10.1) mg/dL, p<0.001]. Hypoparathyroidism was found in 25 of 66 (38%) patients. Symptomatic hypoparathyroidism was not encountered. Thalassemic patients also had significantly lower median plasma FGF-23 levels than the controls [35.7 (2.1-242.8) vs 53.2 (13.3-218.6) pg/mL, p=0.01]. In patients with hypoparathyroidism, median plasma FGF-23 level was significantly lower than that of normoparathyroid patients [34.8 (2.1-120.0) vs 43.1 (3.2-242.8) pg/mL, p=0.048]. However, serum P, Cr, intact PTH and 25-OHD levels were not significantly different in the two groups.
Conclusion: Hypoparathyroidism was not uncommon in patients with transfusion-dependent thalassemia treated with suboptimal iron chelation. Plasma intact FGF-23 level in hypoparathyroid patients was lower than that of normoparathyroid patients.

Objective: This study aims to evaluate ovarian reserve in adolescent girls with Hashimoto’s thyroiditis (HT) by assessment of serum anti-Müllerian hormone (AMH) levels. It was hypothesized that HT decreases ovarian reserve and AMH levels are lower in the HT group.
Methods: Thirty HT patients, aged between 10-18 years, and 30 healthy girls as the control group were enrolled in this cross-sectional study. The mean serum AMH levels of the groups were compared using the Mann-Whitney U test.
Results: There was no statistically significant difference between the patient and the control groups in terms of serum AMH levels. There was a negative correlation between serum AMH and thyroid stimulating hormone (TSH) levels and no correlation between serum AMH and anti-thyroid peroxidase (anti-TPO) or anti-thyroglobulin (anti-Tg) antibody levels.
Conclusion: Our results show that ovarian reserve of adolescent girls, as measured by serum AMH levels, is not affected by HT. Autoimmune damage to the ovaries may take time and the adolescent period may be too early to see these effects. Follow up of the patients for reproductive abnormalities and initiation of prospective studies is recommended.

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.

Objective: To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Methods: Clinical examination and biochemical profile results and gene analysis of 12 members of a family of a patient previously diagnosed with HHRH due to SLC34A3 mutation. Ten healthy controls were also evaluated.
Results: Of the twelve family members three were homozygote and seven heterozygote for the same SLC34A3 variant found in the proband while two others were unaffected. All patients had significantly increased risk of kidney stone formation, bone deformities and short stature compared with unrelated healthy controls. The heterozygous patients displayed milder clinical symptoms compared with homozygous patients. In particular they had mild or no hypophosphatemia and they did not develop skeletal deformities. Recurrent renal stones and hypercalciuria were the main presentations of the heterozygous patients which may be confused with familial hypercalciuria. In addition, biochemical analysis showed significantly low serum sodium and elevated alkaline phosphatase levels in these patients.
Conclusion: Genetic counseling and screening for SLC34A3 mutations can be helpful in adult onset phenotype with unexplained osteoporosis, bone deformities and especial recurrent renal stones. In subjects with vitamin D deficiency the results should be interpreted cautiously.

Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a novel mutation in the AVPR2 gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions.
Methods: The proband was the third off-spring of non-consanguineous parents and had polyuria (4.3 L/day), polydipsia (5 L/day). The diagnosis of CNDI was established by a water-deprivation test and a desmopressin challenge test. Genetic studies were also carried out in the mother, siblings and affected family members, since excessive fluid intake and diuresis were also reported in these individuals. All exons of the AVPR2 gene for all participants were amplified and sequenced. Bioinformatics analysis for wild-type and mutant AVPR2 were obtained with Swiss-Model and UCSF Chimera 1.10.2.
Results: A novel, hemizygous, missense mutation was identified at the position 80th in exon 2 (p.H80Y) of AVPR2 in the proband. The proband’s mother, maternal aunt and grandmother were heterozygous and his maternal uncle was hemizygous for this mutation. Bioinformatic analysis indicates this mutation would cause significant conformational changes in protein structure.
Conclusion: p.H80Y mutation will cause inappropriate folding of the protein compromising water homeostasis via AVPR2 and AVP and leading to diabetes insipidus. We suggest that future functional investigations of the H80Y mutation may provide a basis for understanding the pathophysiology of the NDI in patients with this variant.

Objective: Obesity is a chronic disease which leads to medical and psychiatric complications. Family climate is a critical factor in the treatment of obesity and comorbid psychiatric disorders. In our study, perceived expressed emotion (EE), psychopathology, self-esteem and emotional and behavioural problems (BP) among obese adolescents were investigated and compared with their non-obese peers.
Methods: The subjects were 49 obese adolescents and 47 non-obese adolescents served as the control group. All participants were requested to fill out the Socio-demographic Data Form, Shortened Level of Expressed Emotion Scale, Rosenberg Self-Esteem Scale, Strength and Difficulties Questionnaire-Adolescent Form.
Results: In our study, obese adolescents showed a significant difference in perceived EE (p<0.001). Subscales of EE, such as Lack of Emotional Support (p<0.001), intrusiveness (p<0.001), irritability (p<0.001), self-esteem (p<0.001), emotional and BP (p<0.001), attention deficit-hyperactivity disorder (p<0.001), problems in peer relationships (p<0.001) and social skills (p<0.001) were significantly worse when compared with the control group. There was a strong relationship between EE and emotional and BP and self-esteem.
Conclusion: The higher rate of perceived EE, psychopathology and low self-esteem among obese adolescents showed that obesity prevention and treatment are also crucial for good mental health in adolescents. The important role of the family in mental health of obese adolescents was emphasized. It was shown that identification of risk factors in childhood that promote obesity should be done so that targeted intervention and prevention programs can be developed.

Objective: The current study aimed to investigate psychiatric consequences of obesity and the relationship between componenets of the metabolic syndrome and psychiatric disorders in children. Our second aim was to elucidate which of the anthropometric parameters or metabolic components were most strongly associated with psychiatric disorders.
Methods: The study included 88 obese and overweight children with a body mass index (BMI) greater than 85th percentile. The patients were evaluated for psychiatric disorders by a single child and adolescent psychiatrist. Forty patients diagnosed with psychiatric disorders and 48 patients with normal psychiatric evaluation were compared in terms of anthropometric and metabolic parameters. BMI, BMI-standard deviation score and BMI percentile, waist circumference, waist to hip ratio, blood pressure and pubertal stage of all patients were recorded. Fasting serum glucose, insulin, lipid profile and homeostatic model assessments of insulin resistance (HOMA-IR) were measured to evaluate the metabolic parameters. Serum and 24 hour urine cortisol levels were measured.
Results: HOMA-IR in the group with psychiatric disorders was found to be significantly higher than in the group without psychiatric disorders (6.59±3.36 vs 5.21±2.67; p=0.035). Other anthropometric measurements and metabolic parameters were not significantly different between the two groups.
Conclusion: An understanding of the relationships between obesity related medical comorbidities and psychiatric pathologies is important to encourage patients and their families to make successful healthy lifestyle changes and for weight management in terms of appropriate treatment.

Hypochondroplasia is a cause of disproportionate short stature and characterized by minor clinical manifestations. The aim of this study was to evaluate the efficacy of long-term growth hormone (GH) therapy in hypochondroplastic cases with inadequate response to GH stimulation tests. In this study, six patients who had a height standard deviation score of -3.43 before the treatment and a mean age of 7.42 years and who had received GH treatment at a dose of 0.2 mg/kg/week for a mean period of 4.45 years were evaluated. A good response was found in the first year of treatment, but this increase was not found to be sufficient for the patients to achieve an adequate final height.

Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. A 19 months old girl patient was assessed due to presence of ambiguous genitalia. There were findings of maternal virilization during pregnancy. The karyotype was 46,XX. Congenital adrenal hyperplasia was not considered since adrenocorticotropic hormone, cortisol, and 17-hydroxyprogesterone levels were within normal ranges. At age two months, follicle-stimulating hormone and total testosterone levels were elevated and estradiol level was low. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation IVS7-2A>G (c.744-2A>G) was identified in the CYP19A1 gene. Pelvic ultrasound showed hypoplasic ovaries rather than large and cystic ovaries. We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency.

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood. Clinical and biochemical findings such as respiratory and circulatory dysfunction, hypothalamic hypernatremia, central hypothyrodism, hyperprolactinemia and central early puberty in these patients matched the criteria for ROHHAD syndrome. ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.

Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype of external genitals, associated with persistence of Müllerian structures. This report includes the presentation of a 2.5 year old male patient due to bilateral undescended testis. His karyotype was 46,XY. The increase in testosterone following human chorionic gonadotropin stimulation test was normal. The patient was referred to our clinic after uterine, fallopian tube and vaginal remnants were recognized during the orchiopexy surgery. The family reported that the eight year old elder brother of the patient was operated on for right inguinal hernia and left undescended testis at the age of one year. A right transverse testicular ectopia was found in the elder brother. Both cases had normal AMH levels. AMHR2 gene was analyzed and a homozygous NM_020547.3:c.233-1G>A mutation was found that was not identified previously. In conclusion, we determined a novel mutation in the AMHR2 gene that was identified for the first time. This presented with different phenotypes in two siblings.

Spontaneous intracranial hypotension (SIH) is a rare and potentially serious condition in childhood. Cerebrospinal fluid (CSF) volume depletion is thought to be the main causative feature for intracranial hypotension and results from a spontaneous CSF leak, often at the spine level. SIH is increasingly diagnosed in clinical practice, although it manifests a varied symptomatology. The downward displacement of the brain, sometimes mimicking a Chiari I malformation, has rarely been reported. We present a case of a SIH with Chiari I malformation accompanied by an unusual clinical presentation of persistent hypoglycemia.