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Öğe 17? Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort(Springer, 2024) Siklar, Zeynep; Camtosun, Emine; Bolu, Semih; Yildiz, Melek; Akinci, Aysehan; Bas, Firdevs; Dundar, IsmailPurpose17 alpha Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.MethodsData from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.ResultsMean age at admission was 13.54 +/- 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.ConclusionThis study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.Öğe İletişimsizliğin Çocuk Sağlığına Etkilerinden Biri: Nutrisyonel Rikets(2022) Kurt, Fatih; Yalçin, Nilgün; Bolu, SemihD vitamini, parathormon ve kalsitonin ile birlikte kemik, böbrek ve bağırsak arasındaki kalsiyum (Ca)-fosfor(P) metobolizmasını ve kemik mineralizasyonunu sağlamaktadır. Nütrisyonel rikets, D vitaminive/veya kalsiyum eksikliğine bağlı olarak büyüme plaklarında kusurlu kondrositve osteoid mineralizasyonundankaynaklanır. Ülkemizde Sağlık Bakanlığı tarafından 2005 yılından itibaren ilk bir yıl tüm süt çocuklarına ücretsiz 400 IU/gün D vitamini desteği yapılmaktadır. Ülkemizde bulunan göçmen aile bebeklerine D vitamini desteği verilmesine rağmen, aileler birinci basamak sağlık merkezlerindeki görevli sağlık çalışanları ile iletişim kuramadığı için bu destek tedaviyi hangi dozda ve ne zamana kadar kullanması gerektiğini bilmemekte, eksik dozda veya kısa süreli kullanabilmektedir. Biz bu makalede nutrisyonel rikets tanısı ile tedavi verilen hastayı sunarak literatüre katkı yapmak ve göçmen aileler ile iletişim eksikliğine bağlı oluşabilecek sorunlara dikkat çekmek istedik.Öğe The Predictors of Pneumonia in Children with COVID-19(2023) Yoldaş, Meyri Arzu; Tayfur, Aslı Çelebi; Daniş, Ayşegül; Hanci, Fatma; Atasoy, Halil Ibrahim; Bolu, Semih; Cosgun, ZelihaThe purpose of this study was to evaluate the relationship between the presence of pneumonia and blood parameters in cases of Coronavirus disease (COVID-19) and to examine their predictive characteristics in terms of pneumonia. We reviewed the file records of 151 pediatric patients with a diagnosis of COVID-19 confirmed by the real time-reverse transcription polymerase chain reaction test in nasopharyngeal swabs. The patients were divided into two groups based on direct chest X-ray and computed tomography results in [Group 1 (n:41), with pneumonia findings, and Group 2 (n:110), with no pneumonia findings]. The groups’ demographic data, clinical and laboratory findings were compared. Pulmonary involvement was determined in 41 (27.1%) of the 151 patients. The [body mass index (BMI) Z-score], red blood cell distribution width (RDW), mean platelet volume (MPV), neutrophil lymphocyte ratio, passive leg raise, and D-dimer levels were significantly higher in patients with pneumonia than those without pneumonia in our study. Based on multivariate logistic regression analysis, BMI Z-score, MPV, and RDW were found to be independent risk factors of pneumonia in patients. The current study showed higher levels of blood parameters in patients with coronavirus disease 2019 (COVID -19) presenting with pneumonia than those without pneumonia. We suggest that BMI-Z score and MPV value may assist in predicting pulmonary involvement in patients with COVID-19.Öğe The prevalence of vitamin D deficiency and the factors affecting vitamin D levels in children admitted to the outpatient clinic of pediatric endocrinology in Bolu province(Elsevier France-Editions Scientifiques Medicales Elsevier, 2023) Kılınç, Yasemin Baranoğlu; Bolu, SemihBackground: The present study aimed to determine the rate of vitamin D deficiency in children who presented to the pediatric endocrinology outpatient clinic in Bolu and to investigate the factors affecting vitamin D levels.Methods: Vitamin D levels of 1008 children and adolescents were retrospectively analyzed according to age group (0-1, 1-10, and 10-18 years), gender, season, month, obesity and other diseases, and deficiency category. Moreover, calcium, phosphorus, alkaline phosphatase, and parathyroid hormone levels were evaluated. Comparisons and correlation analyses between related groups were performed.Results: The mean vitamin D level of the patients was 16.35 +/- 9.56 ng/mL and was lower in girls (14.90 +/- 9.56 ng/mL) than in boys (18.68 +/- 9.63 ng/mL, p<0.001). Overall, 18.3% of the children and adolescents had vitamin D insufficiency, 52.3% had vitamin D deficiency, and 3.5% had severe vitamin D deficiency. Vitamin D levels were lower in 10-18-year age group than in the other age groups (p<0.001), and levels were higher in summer and autumn than in winter and spring (p<0.001). Vitamin D levels of participants with obesity (14.3 +/- 8.3 ng/mL) were significantly lower than normal-weight participants with no health problems (15.9 +/- 8.3 ng/mL, p = 0.004). There was a negative correlation between vitamin D, alkaline phosphatase, and parathyroid hormone levels in the 1-10-year age group, but a positive correlation between vitamin D, alkaline phosphatase, and calcium levels in the 10-18-year age group.Conclusion: The rate of vitamin D deficiency is high among children and adolescents who presented to the endocrine outpatient clinic in Bolu. The season appears to be an important factor affecting vitamin D levels as well as the relationship between vitamin D and parathyroid hormone. Obese children and adolescents living in this region may be advised to take vitamin D supplements in winter and spring.Öğe The relationship between blood biochemical parameters and oral health in children with obesity/overweight(Springernature, 2023) Yoldaş, Meyri Arzu; Yılmazel, Simge Vural; Bolu, Semih; Daniş, AysegülAim The purpose of this study was to evaluate the effects of obesity and overweight on the oral/dental health and blood biochemistry parameters in children.Methods A total of 87 children (29 boys, 58 girls) aged 1-18 presenting to our paediatric endocrinology outpatient clinic were included in the study. The patient group consisted of children with obesity/overweight and the control group consisted of children with normal weight. Paediatric patients were examined simultaneously by a paediatrician and a paediatric dentist. Oral/dental health examinations of all children included in the study were performed by a specialist paediatric dentist and dmft/DMFT (decayed, missing and filled teeth) values were calculated separately in the mixed dentition period. The Community Periodontal Index of Treatment Needs 23 index and the dental plaque 35 index were evaluated at oral/dental health examinations. Oral and dental health examination findings and blood biochemistry parameters were compared between the two groups.Results While DMFT, dental plaque index, blood c-reactive protein (CRP) and parathyroid hormone (PTH) levels were significantly increased in children with overweight/obesity compared to children with normal weight, there was no difference in terms of daily toothbrushing habits and last dental examination times. Overweight/obesity was found to be associated with the dental plaque and DMFT/dmft index, and elevation in the blood biochemistry parameters CRP and PTH among the children in this study.Conclusion The observation of significant elevation in DMFT and dental plaque indices and numbers of filled deciduous teeth showed that oral/dental health problems and dental decay may emerge more frequently in children with overweight/obesity. Children with overweight should be routinely provided with dental care as part of a multidisciplinary team that includes paediatricians and dentists. High c-reactive protein and parathyroid hormone values determined in children with obesity/overweight showed that excess weight causes an inflammatory process in the body.High, significant DMFT and dental plaque index scores detected in children with obesity/overweight may be evidence that overweight plays an effective role in dental caries in children.Excessive weight gain in children can cause oral and dental health problems, so necessary precautions should be taken.Öğe Similarities and differences between familial Mediterranean fever (FMF) and multisystem inflammatory syndrome (MIS-C) in children(2023) Yoldaş, Meyri Arzu; Tayfur, Aslı Çelebi; Hanci, Fatma; Daniş, Ayşegül; Bolu, Semih; Atasoy, Halil IbrahimAim: We aimed to reveal the similarities and differences between the rare and severe multisystem inflammatory syndrome (MIS-C) and active familial Mediterranean fever (FMF) disease in children. Our study may help in the early recognition of MIS-C syndrome in children and distinguish it from other diseases with similar symptoms. Methods: We evaluated the demographic and clinical characteristics, laboratory findings, treatments and outcomes of patients with MIS-C syndrome and active FMF. Results: The clinical and laboratory findings of a total of 66 patients hospitalized in our pediatric clinic with the diagnosis of active FMF (n:42) and MIS-C syndrome (n:24) were reviewed retrospectively. The reason for pediatric emergency admission was determined as resistant fever in all patients. When the clinical findings of the patients were compared, it was determined that joint and abdominal pain in the FMF group and vomiting, rash, cough, Lenfadenopati (LAP) and myalgia findings in the MIS-C group were statistically significantly higher (p<0.05). When the laboratory findings were evaluated between the two groups, the lymphocyte count and vitamin D levels were statistically significantly lower, while the leukocyte count, glucose, C-reactive protein (CRP), ferritin, lactate dehydrogenase (LDH), sedimentation, aspartate aminotransferase (AST), alanine aminotransferase (ALT) were found to be significantly higher in the group with MIS-C syndrome (p<0.05 ). Conclusion: We think that the results of our study may guide pediatricians and clinicians in the early differential diagnosis and management of MIS-C, by showing the similarities and differences among MIS-C patients from autoinflammatory diseases such as FMF.Öğe Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted nextgeneration sequencing panel(Springer, 2022) Doğan, Mustafa; Eröz, Recep; Bolu, Semih; Yüce, Hüseyin; Gezdirici, Alper; Arslanoğlu, İlknurBackground Maturity-onset diabetes of the young (MODY), which is the most common cause of monogenic diabetes, has an autosomal dominant pattern of inheritance and exhibits marked clinical and genetic heterogeneity. The aim of the current study was to investigate molecular defects in patients with clinically suspected MODY using a next-generation sequencing (NGS)-based targeted gene panel. Methods Candidate patients with clinical suspicion of MODY and their parents were included in the study. Molecular genetic analyses were performed on genomic DNA by using NGS. A panel of ten MODY-causal genes involving GCK, HNF1A, HNF1B, HNF4A, ABCC8, CEL, INS, KCNJ11, NEUROD1, PDX1 was designed and subsequently implemented to screen 40 patients for genetic variants. Results Ten different pathogenic or likely pathogenic variants were identified in MODY-suspected patients, with a diagnostic rate of 25%. Three variants of uncertain significance were also detected in the same screen. A novel pathogenic variant in the gene HNF1A (c.505_506delAA [p.Lys169AlafsTer18]) was described for the first time in this report. Intriguingly, we were able to detect variants associated with rare forms of MODY in our study population. Conclusions Our results suggest that in heterogenous diseases such as MODY, NGS analysis enables accurate identification of underlying molecular defects in a timely and cost-effective manner. Although MODY accounts for 2-5% of all diabetic cases, molecular genetic diagnosis of MODY is necessary for optimal long-term treatment and prognosis as well as for effective genetic counseling.
