ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 1 Issue : 3 Year : 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY - J Clin Res Pediatr Endocrinol: 1 (3)
Volume: 1  Issue: 3 - 2009
REVIEW
1.Controversies in the Definition and Treatment of Idiopathic Short Stature (ISS)
Stefania Pedicelli, Emanuela Peschiaroli, Emanuela Peschiaroli, Enrica Violi, Stefano Cianfarani
doi: 10.4008/jcrpe.v1i3.53  Pages 105 - 115
The term idiopathic short stature (ISS) refers to short children with no identifiable disorder of the growth hormone (GH)/insulin like growth factor (IGF) axis and no other endocrine, genetic or organ system disorder. This heterogeneous group of short children without GH deficiency (GHD) includes children with constitutional delay of growth and puberty, familial short stature, or both, as well as those with subtle cartilage and bone dysplasias. In rare cases, ISS is due to IGF molecular abnormalities. In this review we tackle the major challenges in the definition and treatment of ISS.

ORIGINAL ARTICLE
2.CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children
Firdevs Baş, Hülya Kayserili, Feyza Darendeliler, Oya Uyguner, Hülya Günöz, Memnune Yüksel Apak, Fatmahan Atalar, Rüveyde Bundak, Robert C. Wilson, Maria I. New, Bernd Wollnik, Nurçin Saka
doi: 10.4008/jcrpe.v1i3.49  Pages 116 - 128
Background: Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene.
Objective: Our aim was to determine the frequency of common gene mutations and to evaluate genotype-phenotype correlations in Turkish 21-OHD patients.
Methods: Molecular analysis of the CYP21A2 gene was performed for the detection of the eight most common point mutations [p.P30L, IVS2-13C>G (IVS-2), p.I172N, exon 6 mutation cluster (p.I236N, p.V237E, p.M239K), p.V281L, p.Q318X, p.R356W, 8-bp-deletion], of large deletion and conversion by southern blotting, allele specific semi-quantitative PCR/enzyme restriction method and sequencing, in 56 patients with 21-OHD, from 52 families.
Results: Disease-causing mutations were identified in 77 out of 91 alleles (84.6%) of the patients. Mutations were found in 34 of 43 alleles (79.1%) in salt wasting (SW; n=26), 32 of 36 alleles (88.8%) in simple virilizing (SV; n=24) and 11 of 12 alleles (91.6%) in non-classical (NC; n=6) form of CAH. The most frequent mutations were IVS-2 (22.0%), large conversion (14.3%), p.I172N (9.9%) p.R356W (8.8%), and large deletion (6.6%). In the SW form, the most frequent genotypes were homozygous for IVS-2 (11.5%) and homozygous for large conversion of the gene (11.5%). In the SV form, the most frequent genotype was homozygous for IVS-2 (20%), followed by compound heterozygous for p.I172N/8-bp del (10%). Homozygous for p.V281L (16.7%) was most common in NC. In most cases there was good correlation between genotype and phenotype. In the SW and NC forms, genotypes of all the patients correlated with their phenotypes.
Conclusions: This is the first comprehensive study on the molecular basis of CAH patients in the Turkish population. Based on these results, we propose a modified screening strategy to facilitate molecular testing of CAH patients in our population.

3.The Weight and Height Percentiles in 6-18 Year Old Children in Kayseri and Comparison with Istanbul Data
Nihal Hatipoğlu, Selim Kurtoğlu, Ahmet Öztürk, Mümtaz Mustafa Mazıcıoğlu
doi: 10.4008/jcrpe.v1i3.47  Pages 129 - 135
Background: One of the mostly used and preferred method in following the growth of children is to plot weight and height values of the children on standard percentile charts. It is essential for each country to use its own populations’ updated percentile curves. However, data on the growth of children living in different regions are also needed for comparison with the national standards.
Methods: This study was conducted in Kayseri with a trained team in order to obtain anthropometrical measurements in children and adolescents. Weight and height measurements from 5727 (2785 boys, 2942 girls) healthy school children (aged between 6 to 18 years) from all socioeconomic levels were randomly selected. Smoothed percentile curves were produced by LMS method.
Results: Smoothed percentile curves including the percentile values for 3rd, 5th, 10th, 25th, 50th, 75th, 85th, 90th, 95th and 97th and standard deviation scores were calculated for boys and girls. The 3rd, 50th and 97th centiles of weight and height of these children were compared with the respective values of the established national standards obtained from Istanbul children.
Conclusions: This study presents data and smoothed percentile curves for weight and height measurement of healthy central Anatolia children aged 6 to 18 years. Nationwide studies are needed to bring out the regional differences in our country.

4.Audit of Microalbumin Excretion in Children with Type I Diabetes
Filiz Mine Çizmecioğlu, Kathryn Noyes, Louise Bath, Chris Kelnar
doi: 10.4008/jcrpe.v1i3.44  Pages 136 - 143
Objective: To investigate prevalence, persistence and clinical correlates of increased microalbumin excretion in random urine samples collected in a paediatric diabetes clinic.
Method: Random urine samples were collected annually in patients >10 years attending the diabetes clinic in the Royal Hospital for Sick Children, Edinburgh. Albumin excretion is expressed as albumin: creatinine ratio (ACR) and classified as normal (10mg/mmol), or macroalbuminuria (>47 mg/mmol in females, >35 mg/mmol in males). We analyzed retrospectively results on 421 urine samples collected from 217 patients (109 males), of a median age of 12.3 years (94% 10-16 years) over 3 years. For each sample, the corresponding mean HbA1c over the previous year was calculated.
Results: Prevalence of micro- and macro-albuminuria in individual samples was 1% and 0.5% respectively. ACR was equivocal in 10.1% and 4.7% in samples from females and males respectively (p=0.03). HbA1c showed borderline significant differences across ACR groups (p=0.06). Equivocal ACR excretion was associated with slightly higher mean HbA1c (9.5±1.3%) compared to normal albuminuria (9.0±1.1%, p3.5 mg/mmol. The 14-16 years age group patients were most likely to have ACR >3.5 mg/mmol (p=0.05).
Conclusions: Female sex and increasing age, but not HbA1c, were independently associated with increased ACR. A robust mechanism for collection of repeat early morning urine samples from patients with increased ACR in random urine samples, and follow-up of those patients who have persistently high microalbumin excretion are important. It is also important to confirm the usefulness of ACR measurements in random urine samples as a marker of incipent nephropathy.

5.Glucagon-like Peptide-1 and-2 Levels in Children with Diabetic Ketoacidosis
Ayşehan Akıncı, Özgür Aydın, Halil İbrahim Özerol
doi: 10.4008/jcrpe.v1i3.12  Pages 144 - 150
Background: One of the mostly used and preferred method in following the growth of children is to plot weight and height values of the children on standard percentile charts. It is essential for each country to use its own populations’ updated percentile curves. However, data on the growth of children living in different regions are also needed for comparison with the national standards.
Methods: This study was conducted in Kayseri with a trained team in order to obtain anthropometrical measurements in children and adolescents. Weight and height measurements from 5727 (2785 boys, 2942 girls) healthy school children (aged between 6 to 18 years) from all socioeconomic levels were randomly selected. Smoothed percentile curves were produced by LMS method.
Results: Smoothed percentile curves including the percentile values for 3rd, 5th, 10th, 25th, 50th, 75th, 85th, 90th, 95th and 97th and standard deviation scores were calculated for boys and girls. The 3rd, 50th and 97th centiles of weight and height of these children were compared with the respective values of the established national standards obtained from Istanbul children.
Conclusions: This study presents data and smoothed percentile curves for weight and height measurement of healthy central Anatolia children aged 6 to 18 years. Nationwide studies are needed to bring out the regional differences in our country.

CASE REPORT
6.A Patient with 22q11.2 Deletion Syndrome: Case Report
Sema Kabataş Eryılmaz, Firdevs Baş, Ali Satan, Feyza Darendeliler, Rüveyde Bundak, Hülya Günöz, Nurçin Saka
doi: 10.4008/jcrpe.v1i3.46  Pages 151 - 154
22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.

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