doi: 10.4274/jcrpe.v2i4.137 Pages 137 - 143
Nutritional rickets (NR) is still the most common form of growing bone disease despite the efforts of health care providers to reduce the incidence of the disease. Today, it is well known that the etiology of NR ranges from isolated vitamin D deficiency (VDD) to isolated calcium deficiency. In Turkey, almost all NR cases result from VDD. Recent evidence suggests that in addition to its short- or long-term effects on skeletal development, VDD during infancy may predispose the patient to diseases such as diabetes mellitus, cancer and multiple sclerosis. Among the factors responsible for the high prevalence of VDD in developing countries and its resurgence in developed countries is limited sunshine exposure due to individuals spending more time indoors (watching television and working on computer) or avoiding sun exposure intentionally for fear of skin cancer. Traditional clothing covering the entire body except the face and hands) further limits the exposure time to sunlight and, thus, decreases the endogenous AAynthesis of vitamin D. In Turkey, maternal VDD and exclusive breastfeeding without supplementation were reported to be the most prominent reasons leading to NR. The diagnosis of NR is established by a thorough history and physical examination and confirmed by laboratory evaluation. Recent reports draw attention to the supplemental doses of vitamin D required to achieve a serum 25-hydroxyvitamin D level of at least 20 ng/ml (50 nmol/l) - the serum concentration that is needed to optimize absorption of dietary calcium and to suppress excessive secretion of parathyroid hormone. This type of prevention will also reduce fracture risk as well as prevent long-term negative effect of vitamin D insufficiency.
|2.||Waist Circumference and Mid-Upper Arm Circumference in Evaluation of Obesity in Children Aged Between 6 and 17 Years|
M. Mümtaz Mazıcıoğlu, Nihal Hatipoğlu, Ahmet Öztürk, Betül Çiçek, H. Bahri Üstünbaş, Selim Kurtoğlu
doi: 10.4274/jcrpe.v2i4.144 Pages 144 - 150
Objective: The purpose of this study was to determine the cut-off values for waist circumference (WC) and mid-upper arm circumference (MUAC) and to assess their use in screening for obesity in children.
Methods: Anthropometric measurements of a total of 2621 boys and 2737 girls aged 6-17 years were analyzed. WC and MUAC values were compared with ROC analysis using body mass index (BMI) cut-off values of the International Obesity Task Force (IOTF) and using WC? 90th percentile.for MUAC.
Results: In both genders, except for boys and girls in the 6-year age group and post-pubertal boys, the differences between area under curve (AUC) values for WC and MUAC were not significant, indicating that both indices performed equally well in predicting obesity. Sensitivity was suboptimal through age groups 6-9 years in the boys and sensitivity was suboptimal at 6, 7,14 and 17 years both in boys and girls.
Conclusions: We conclude that MUAC can be a useful parameter in screening obesity and body fat distribution in children and, can be applied in epidemiological studies and in clinical practice.
|3.||Celiac Disease and Autoimmune Thyroid Disease in Children with Type 1 Diabetes Mellitus: Clinical and HLA-Genotyping Results|
Ayça Törel Ergür, Gönül Öçal, Merih Berberoğlu, Pelin Adıyaman, Zeynep Şıklar, Zehra Aycan, Olcay Evliyaoğlu, Aydan Kansu, Nurten Girgin, Arzu Ensari
doi: 10.4274/jcrpe.v2i4.151 Pages 151 - 154
Objective: Increased prevalence of celiac disease (CD) and autoimmune thyroid disorders (ATD) in patients with Type 1 diabetes mellitus (T1D) has been widely reported. Such an association may lead to adverse effects on the growth, bone metabolism and fertility, and response to therapy may become difficult. The aim of this study was to evaluate the clinical findings and HLA typing results in patients with T1D associated with CD or ATD.
Methods: The association of CD and ATD was evaluated in 38 children with T1D aged 1.5-16.8 years who had been followed for 48.3±28 months. Diagnosis of CD was based on positivity for serum endomysial IgA antibody and histopathological findings of intestinal biopsy specimens. Thyroid autoimmunity was assessed by antithyroglobulin and antithyroid peroxidase antibodies and with diagnostic ultrasonographic findings.
Results: ATD was detected in 31.5%, and CD-in 7.8% of T1D patients. Subjects with CD showed either no symptoms or suggestive problems such as short stature, hepatosteatosis, pubertal delay and difficulties in the control of diabetes. Patients with ATD had no clinical symptoms. DQ8 was the most prominent finding in CD.
Conclusions: It is essential that patients with T1D, regardless of presence or absence of symptoms, should be investigated for CD and ATD.
|4.||Effect Of Hypo-and Euthyroid Status On Serum Cystatin C Levels|
Tülin Ayşe Özden, Hüseyin Tekerek, Firdevs Baş, Feyza Darendeliler
doi: 10.4274/jcrpe.v2i4.155 Pages 155 - 158
Objective: The aim of this study was to investigate the effect of hypo- and euthyroid status on serum cystatin C (CysC) levels in children and to explore whether CysC can be used as a marker of the thyroid status.
Methods: Twenty five patients with hypothyroidism (10M, 15F; mean age: 8.7±4.9 years) and 21 healhty age-matched controls (9M, 12F; mean age: 9.7±5.0 years) were included in this study. Serum thyrotropin (TSH), free thyroxine (fT4), serum CysC and creatinine levels were studied in patients with hypothyroidism twice, i.e. in the euthyroid (on L-T4) and hypothyroid state, and in controls.
Results: No significant differences in creatinine, glomerular filtration rate (GFR) and CysC levels were observed between the study group in the euthyroid status and the control group. CysC (mg/dL) level was found to be lower in the hypothyroid status(0.6±0.1) than in the euthyroid status (0.66±0.1) (p=0.01). In hypothyroid status, CysC levels showed a positive correlation with GFR (r=0.463, p=0.02) and GFR had positive correlation with fT4 (r=0.563, p=0.012).
Conclusions: We demonstrated a significant effect of thyroid dysfunction on CysC levels, but the changes in serum CysC levels in hypo- and euthyroid status did not exceed the reference interval. It may be concluded that serum CysC levels have limited use in evaluating the peripheral effects of thyroid hormones.
|5.||Prevalence of Overweight and Obesity in Children and Adolescents in Eastern Turkey|
Sevil Arı Yuca, Cahide Yılmaz, Yaşar Cesur, Murat Doğan, Avni Kaya, Murat Başaranoğlu
doi: 10.4274/jcrpe.v2i4.159 Pages 159 - 163
Objective: The aim of this study was to estimate the prevalence of overweight and obesity in school children in Eastern Turkey.
Methods: This study included 9048 school children aged 6-18 years. The subjects were classified as overweight and obese, according to the International Obesity Task Force.
Results: We found prevalence of overweight of 11.1% in the studied population. It was detected that 2.2% of the population in the study was obese; 2.1% of males and 2.3% of females. While the prevalence of obesity was extremely low before 9 ages and after 15, it reached to high values at puberty and just before pubertal period in boys. The prevalence of overweight was higher in girls and reached to peak point at pubertal ages. Generally, the prevalence of obesity and overweight was slightly higher in girls than in boys, although the boys were more obese in prepubertal ages.
Conclusion: Overweight and obesity are concerns for children and adolescents in low socio-economic status regions as well.
|6.||Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation|
Zeynep Şıklar, Merih Berberoğlu, Maria Legendre, Serge Amselem, Olcay Evliyaoğlu, Bülent Hacıhamdioğlu, Şenay Savaş Erdeve, Gönül Öçal
doi: 10.4274/jcrpe.v2i4.164 Pages 164 - 167
Patients with growth hormone releasing hormone receptor (GHRHR) mutations exhibit pronounced dwarfism and are phenotypically and biochemically indistinguishable from other forms of isolated growth hormone deficiency (IGHD). We presented here two siblings with clinical findings of IGHD due to a nonsense mutation in the GHRHR gene who reached their target height in spite of late GH treatment. Two female siblings were admitted to our clinic with severe short stature at the age of 13.8 (patient 1) and 14.8 years (patient 2). On admission, height in patient 1 was 107 cm (-8.6 SD) and 117 cm (-6.7 SD) in patient 2. Bone age was delayed in both patients (6 years and 9 years). Clinical and biochemical analyses revealed a diagnosis of complete IGHD (peak GH levels on stimulation test was 0.06 ng/mL in patient 1 and 0.16 ng/mL in patient 2). Patients were given recombinant human GH treatment. Genetic analysis of the GH and GHRHR genes revealed that both patientscarried the GHRHR gene mutation p.Glu72X (c.214 G>T) in exon 3 in homozygous (or hemizygous) state. After seven years of GH treatment, the patients reached a final height appropriate for their target height. Final height was 151 cm (-1.5 SD) in patient 1 and 153 cm (-1.2 SD) in patient 2. In conclusion, genetic analysis is indicated in IGHD patients with severe growth failure and a positive family history. In spite of the very late diagnosis in these two patients who presented with severe growth deficit due to homozygous loss-of-function mutations in GHRHR, their final heights reached the target height.
|7.||Sporadic Nonautoimmune Neonatal Hyperthyroidism Due to A623V Germline Mutation in the Thyrotropin Receptor Gene|
Zehra Aycan, Sebahat Yılmaz Ağladıoğlu, Serdar Ceylaner, Semra Çetinkaya, Veysel Nijat Baş, Havva Nur Peltek Kendirici
doi: 10.4274/jcrpe.v2i4.168 Pages 168 - 172
Neonatal hyperthyroidism is a rare disorder and occurs in two forms. An autoimmune form is associated with maternal Graves' disease, resulting from transplacental passage of maternal thyroid-stimulating antibodies and a nonautoimmune form is caused by gain of function mutations in the thyrotropin receptor (TSHR) gene. Thyrotoxicosis caused by germline mutations in the TSHR gene may lead to a variety of clinical consequences. To date, 55 activating mutations of the TSHR gene have been documented. Fourteen cases with sporadic activating TSHR germline mutations have been described. Here we report a male infant with nonautoimmune hyperthyroidism due to an activating germline TSHR mutation (A623V), whose clinical picture started in the newborn period with severe hyperthyroidism. His parents did not have the same mutation. This mutation had been previously detected as a somatic mutation in patients with toxic adenomas. This is the first report of a sporadic case of nonautoimmune congenital hyperthyroidism associated with A623V mutation.
|8.||Vitamin D Deficiency Rickets Mimicking Pseudohypoparathyroidism|
Leyla Akın, Selim Kurtoğlu, Aysel Yıldız, Mustafa Ali Akın, Mustafa Kendirici
doi: 10.4274/jcrpe.v2i4.173 Pages 173 - 175
Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25-hydroxyvitamin D (25(OH)D) levels. In stage 1 VDDR, urinary amino acid and phosphate excretion are normal with minimal or no findings of rickets on radiographs. Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end-organ resistance to parathormone (PTH). VDDR occasionally resembles PHP type 2 in clinical presentation and biochemical features, creating difficulties in the differential diagnosis of these two entities. Here we report an infant diagnosed with VDDR. In addition to inadequate vitamin D intake, usage of antiepileptic drugs (AED) may have led to the worsening of the vitamin D deficiency. The patient presented with a history of febrile convulsions, for which he received phenobarbital treatment. The initial findings of hypocalcemia, hyperphosphatemia and normal tubular reabsorption of phosphate, mimicking PHP 2, responded well to vitamin D and oral Ca treatment with normalization of serum Ca, phosphorus (P), ALP and PTH levels.
|9.||Monogenic Diabetes Secondary to Congenital Lipodystrophy in a 14-year-old Yemeni Girl|
Todd Roth, Sri Nair, Anıl Kumar
doi: 10.4274/jcrpe.v2i4.176 Pages 176 - 179
A 14-year-old female from Yemen presented with intense abdominal pain and headache. She was born at term to distant cousins, developmentally delayed and significantly dysmorphic. Four years ago, she was diagnosed with diabetes mellitus and undiagnosed hepatic, cardiac, genetic, neurologic, endocrine, musculoskeletal, and gastrointestinal disorders. No therapy was prescribed. Admission laboratory data showed blood glucose = 391 mg/dl, hemoglobin A1c= 12.2%, C-peptide = 3.5ng/ml, insulin = 6.8 uIU/ml, triglyceride =385mg/dl, and serum leptin <0.5ng/ml, (1.1-27.5). Chromosome analysis (46, XX) was normal and serology for Glutamic acid Decarboxylase (GAD), hepatitis and HIV were negative. Clinical examination and laboratory data suggested congenital generalized lipodystrophy (CGL, type BSCL-2). This case illustrates that CGL should be in the differential diagnosis for non-obese patients with diabetes and insulin resistance.
|10.||2010 Referee Index|
|11.||2010 Author Index|
|12.||2010 Subject Index|