Şükrü Hatun

Vitamin D deficiency and prevention: Turkish experience

A nationwide ‘vitamin D prophylaxis augmentation programme’ initiated in 2005 in Turkey reduced the prevalence of rickets from 6% in 1998 to 0.1% in 2008 in children under 3 years of age. The programme included free distribution of vitamin D drops to all newborns and infants (0–12 months) visiting primary health stations throughout the country. Free disposal of vitamin D to infants is an effective strategy for preventing vitamin D‐deficient rickets.

Hypovitaminosis D in Obese and Overweight Schoolchildren

Aim: To determine the prevalence of vitamin D hypovitaminosis among obese and overweight schoolchildren. Design: A cross−sectional population based sample. Methods: In a cross−sectional study, 301 students (177 girls and 124 boys) aged 11−19 years were selected by multistage stratified sampling design. Subjects were classified according to their body mass index as obese, overweight and normal. Serum 25−hydroxyvitamin D (25−OHD), intact parathyroid hormone (iPTH) and alkaline phosphatase (ALP) were measured in late winter months. Vitamin D deficiency was defined as a 25−OHD 20 ng/ml. Results: The prevalence of hypovitaminosis D was found as 65% in all students. Vitamin D deficiency was found in 12% and insufficiency in 53% of all students. Vitamin D deficiency in female students was about two times more common than in males. In obese and overweight schoolchildren with hypovitaminosis D, serum 25−OHD levels decreased as BMI increased. There were no correlations between serum 25−OHD and ALP and iPTH levels. Conclusion: Vitamin D deficiency and insufficiency are common in obese and overweight schoolchildren, especially in girls. Obesity could be a risk factor in terms of hypovitaminosis D in adolescents. Vitamin D supplementation should be administered particularly to adolescent girls. Conflict of interest:None declared.

Metabolic bone disease of prematurity: report of four cases.

Osteopenia of prematurity has become a common problem recently because of improved survival rates of infants with very low birth weight (VLBW). The incidence of neonatal osteopenia is inversely correlated with gestational age and birth weight. Herein, we present four cases of preterm osteopenia that were referred to the pediatric endocrinology outpatient clinic with diverse clinical and laboratory findings and we discuss the clinical course of these infants with regard to bone disease after discharge from the neonatal intensive care unit (NICU). This report highlights the importance of enteral calcium, phosphorus and vitamin D support at adequate doses following discharge from NICU for preterm infants with VLBW who are at risk of metabolic bone disease.

Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.

Posttraumatic stress symptoms in children diagnosed with type 1 diabetes

BackgroundStudies consistently found remarkable rates of posttraumatic stress symptoms (PTSS) in children with chronic diseases. But, only one study had searched PTSS in children with diabetes, until now. So, the present study aimed to examine incidence rate and predictors of PTSS in children with type 1 diabetes.MethodPTSS were evaluated by Child Posttraumatic Stress Reaction Index in fifty four children with diabetes (aged between 8–18 years). This assessment was based on hypoglycaemia as the potential traumatic event. Children were also introduced a brief questionnaire about demographic and disease related information. Some other information was obtained from families, medical stuff and records. Among 54 children, forty two had complete information. Hence, to evaluate possible predictive factors related with PTSS, multiple regression analysis was conducted for 42 children.Results18.5% of children were reported PTSS at severe or very severe level, and 51.9% were reported PTSS at moderate level or above. Multiple regression analyses were shown that child PTSS were not significantly related with possible predictive factors other than number of hypoglycaemic attacks for the last month.ConclusionThe study results support that posttraumatic stress symptoms are not rarely seen in paediatric patients with diabetes, and even if not severe, hypoglycaemic attacks may be perceived as traumatic by the children with diabetes. But, because of some limitations, the results should be carefully interpreted.

Features of Two Cases with 18q Deletion Syndrome

The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed‐up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were −3.1 ± 1.7, −1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid‐parental height was positively correlated with height at presentation. Mid‐parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.

National childhood diabetes program activities in Turkey.

Recent census figures in Turkey show that out of a population of 76.6 million, 22.7 million (29.7%) are younger than 18 years old. The great majority (>95%) of pediatric cases of diabetes in Turkey are type 1 diabetes mellitus (T1DM). In recent years, with increase in number of pediatric endocrine centers around the country, the important issue of care for diabetic children and adolescents has been revived and major steps have been taken for improvement in pediatric care and its outreach to all diabetic children. The Childhood Diabetes Group continues its activities in cooperation with the Turkish Ministry of Health. A list of areas of interest of the Group include “School programs”, “Incidence/prevalence studies and national registry system”, “Educational guidelines for diabetes in children”, “Increasing the numbers of camps and summer schools for diabetic children”, “Organization of educational programs for the health team”, “National guidelines for transition of diabetic children to adult clinics”, “Improvement of school canteens”, “Educational spots” to improve awareness of diabetes. The activities of the Childhood Diabetes Group will be discussed in detail in this article.

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.

Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.

A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

Hypoparathyroidism, deafness, and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease, inherited dominantly and found to be related with GATA3 (GATA binding protein 3) gene mutations. A 13-year and 8-month-old boy who presented with hypocalcemia was diagnosed with hypoparathyroidism. He also had dysmorphic facial features, renal anomaly (pelvic kidney), and mild sensorineural hearing loss. His cranial computed tomography revealed multiple calcifications in bilateral centrum semiovale, corona radiata, and basal ganglions suggesting a persistent hypoparathyroidism. Thus, the presence of triad of HDR syndrome was considered, and genetic analysis using a next-generation sequencer identified a novel de novo missense mutation in exon 4 p.R276Q (c.827G>A) of GATA3 gene. This is the second patient who was reported to have a mutation in GATA3 gene from Turkey. In conclusion, although HDR syndrome is a rare condition, it should be kept in mind in patients with hypoparathyroidism. Classical triad can easily be identified if patients diagnosed with hypoparathyroidism are also evaluated with a urinary tract ultrasound and an audiometer.