Volume CXIV, Number 4, November 7, 1996

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 lifespa

Long-term monitoring of Graves' disease in children and adolescents: a single-center experience

Background/aim: Graves' disease (GD) is more severe, requires a more complex treatment, and has a lower probability of achieving remission in children than in adults. 'there is no consensus on the appropriate duration of antithyroid drug (ATD) treatment. Surgical or radioactive iodine (RAI) treatments are not definitive and generally result in permanent hypothyroidism. This study's goal was examining the effectiveness of ATD treatment in children and adolescents with GD and determining the risk factors of remission and relapse

Intragastric alendronate therapy in two infants with vitamin D intoxication: A new method

In recent years, alendronate, an oral biphosphonate, has been added to therapy of hypercalcemia secondary to vitamin D intoxication in children. Alendronate may cause mucosal ulcerations in the mouth and esophagus. We report our experience in two infants with vitamin D intoxication to whom alendronate therapy was administered through nasogastric tube, an alternate route for alendronate administration

Impact of the coronavirus disease 2019 pandemic on obesity, internet addiction, and sleep quality in adolescents

Purpose: This descriptive cross-sectional study aimed to examine the effects of the coronavirus disease-19 (COVID-19) pandemic on obesity, Internet addiction, and sleep quality in adolescents

Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing

Objectives Non-syndromic monogenic obesity is a rare cause of early-onset severe obesity in the childhood period. The aim of this study was to screen four obesity related genes (LEP, LEPR, MC4R and POMC) in children and adolescents who had severe, non-syndromic early onset obesity. Methods Next-generation sequencing of all exons in LEP, LEPR, MC4R and POMC was performed in 154 children and adolescents with early onset severe obesity obesity. Results Fifteen different variants in nineteen patients were identified with a variant detection rate of 12.3%. While six different heterozygous variants were observed in MC4R gene (10/154 patients; 6.5%), five different variants in POMC gene (four of them were heterozygous and one of them was homozygous) (6/154 patients; 3.9%) and four different homozygous variants in LEPR gene (3/154 patients; 1.9%) were described. However, no variants were detected in the LEP gene. The most common pathogenic variant was c.496G>A in MC4R gene, which was detected in four unrelated patients. Six novel variants (6/15 variants; 40%) were described in seven patients. Four of them including c.233C>A and c.752T>C in MC4R gene and c.761dup and c.1221dup in LEPR gene were evaluated as pathogenic or likely pathogenic. Conclusions In conclusion, MC4R variants are the most common genetic cause of monogenic early-onset obesity, consistent with the literature. The c.496G>A variant in MC4R gene is highly prevalent in early-onset obese patients

The assessment of peripapillary retinal nerve fiber layer and macular ganglion cell layer changes in obese children: a cross-sectional study using optical coherence tomography

To investigate the relationship between the obesity and optical coherence tomography (OCT) parameters

Genetic and clinical characteristics of Turkish children with Maturity Onset Diabetes of the Young Type 2 (MODY2): A single center experience

Objective: The aim of the study was to investigate the clinical and molecular genetic characteristics of children with maturity-onset diabetes of the youth-glucokinase (MODY-GCK, MODY type 2). Method: Medical files of 21 patients with suspected MODY-GCK were reviewed retrospectively. The file records of the clinical findings, laboratory results and the suspected clinical diagnoses of MODY were based on (1) asymptomatic fasting hyperglycemia (glucose ≥100mg/dl, HbA1c < 7.5% (at least twice measurement) 2) parents with a history of diabetes without complications or mild fasting hyperglycemia (100-144mg/dL). Results: The mean age at diagnosis was 11.5±4.3 years (min-max, 1.9-17.2). The mean (SD) fasting blood glucose level was 119.1 (9.8) mg/dL. The mean (SD) fasting C-peptide level was 1.3 (0.7) ng/mL, the mean (SD) insulin level was 5.9 (2.3) IU/ml, and the mean (SD) HbA1c level at diagnosis was 6.2 (0.5) %. Among 12 variants detected in the GCK gene, 8 were missense mutation, 2 were non-sense mutation, 1 of them was splice site and 1 of them was frameshift mutation. Eight of them (p. Val227Met, p. Ser282Ala, p.Val183Met, p.Met239Thr, p.Arg304Gln, p.Thr229Met, p.Gly163Asp, p.Cys130Ter) have been previously reported in the literature and 4 variants (c.582+4delA, p.Glu436Ter, p.His106ThrfsTer11, p.Asp133Gly) were novel. Conclusion: We found similar phenotype characteristic of children with GCK-MODY among the children with different variants. The most common mutation type was missense and followed by nonsense, splice site and frameshift mutations. Detection of the molecular defect in patients with MODY is vital for the implementation of appropriate treatment approaches