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Copyright of Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi is the property of Turkish Journal of Pediatric Disease and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Obesity is an important public health problem growing increasingly in Turkey and in the world. Syndromic obesity is a rare but an important cause of obesity. Aim of the study is bringing to mind the question of which history and physical examination findings should be suspected in outpatient evaluation of syndromic obese cases. Thus, early diagnosis and treatment of additional life-threatening anomalies will be provided in these cases. Material and Methods: In this study, 17 syndromic obese patients under the age of 18 who applied to Ankara City Hospital Pediatric Endocrinology outpatient clinic between January 2019 and January 2021 were included. Physical examinations and anthropometric evaluations of the cases, laboratory findings, visual and hearing examinations, renal and hepatobiliary imaging, echocardiographic evaluations, psychiatric evaluations, additional diseases, their medications and available genetic results were collected by scanning the patient files. Results: A total of 17 cases were included in the study. Nine of these cases were girls and eight were boys. The earliest diagnosis age of the cases was 2 years and the latest diagnosis age was 12 years and 6 months. Four cases were diagnosed with Prader Willi syndrome, three cases with Bardet Biedel syndrome, six cases with Alström syndrome and four cases with pseudohypoparathyroidism Type 1 A. The application complaint was excess weight and desire to eat in 13 patients. However, three patients who diagnosed with pseudohypoparathyroidism had hypocalcemia and the other one had short stature. Conclusion: The fact that the earliest diagnosis age was 2 years in our cases showed that polyclinic physical examinations and taking anamnesis should be done more carefully. In addition, the last outpatient clinic examinations of the cases showed that the expected success could not be achieved in the prevention and follow-up of obesity. If families get more education on this subject and take important role in treatment, patients will be protected from increased obesity and additional complications. [ABSTRACT FROM AUTHOR]

Objective: Obesity is an important public health problem growing increasingly in Turkey and in the world. Syndromic obesity is a rare but an important cause of obesity. Aim of the study is bringing to mind the question of which history and physical examination findings should be suspected in outpatient evaluation of syndromic obese cases. Thus, early diagnosis and treatment of additional life-threatening anomalies will be provided in these cases. Material and Methods: In this study, 17 syndromic obese patients under the age of 18 who applied to Ankara City Hospital Pediatric Endocrinology outpatient clinic between January 2019 and January 2021 were included. Physical examinations and anthropometric evaluations of the cases, laboratory findings, visual and hearing examinations, renal and hepatobiliary imaging, echocardiographic evaluations, psychiatric evaluations, additional diseases, their medications and available genetic results were collected by scanning the patient files. Results: A total of 17 cases were included in the study. Nine of these cases were girls and eight were boys. The earliest diagnosis age of the cases was 2 years and the latest diagnosis age was 12 years and 6 months. Four cases were diagnosed with Prader Willi syndrome, three cases with Bardet Biedel syndrome, six cases with Alström syndrome and four cases with pseudohypoparathyroidism Type 1 A. The application complaint was excess weight and desire to eat in 13 patients. However, three patients who diagnosed with pseudohypoparathyroidism had hypocalcemia and the other one had short stature. Conclusion: The fact that the earliest diagnosis age was 2 years in our cases showed that polyclinic physical examinations and taking anamnesis should be done more carefully. In addition, the last outpatient clinic examinations of the cases showed that the expected success could not be achieved in the prevention and follow-up of obesity. If families get more education on this subject and take important role in treatment, patients will be protected from increased obesity and additional complications. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi is the property of Turkish Journal of Pediatric Disease and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: It has recently been revealed that vitamin D deficiency is becoming more common in children together with the widespread problem of obesity. The aim of this study was to evaluate the relationship between insulin resistance and hepatosteatosis and vitamin D in obese children. Material and Methods: The medical records of patients aged 3-18 years who presented to the Pediatric Endocrinology Clinic of the Department of Health Sciences University, Ankara Children's Health and Diseases Hematology Oncology Training and Research Hospital were evaluated retrospectively. Children and adolescents with a body mass index (BMI) greater than the 95th percentile by age and sex were included in the study. Vitamin D deficiency was defined as a serum 25-hydroxy-vitamin D (25-(OH)D) level below <12 ng/ml (<30 nmol/L), vitamin D insufficiency as a 25-(OH)D level of 12-20 ng/ml (30-50 nmol/L) and the normal vitamin D level as >20 ng/ml (>50 nmol/L). Results: A total of 356 patients, including 212 (59.6%) girls, were reached in the study. The mean age of the patients was 12.3 ± 3.26 years (3.11-18.0) and the mean BMI SDS was 2.47 ± 0.69 (1.66-8.32). The mean 25 (OH) vitamin D level was 12.54 ± 5.23 ng/ml and the mean HOMA-IR was 3.45 ± 2.31 (0.44-18.9). Vitamin D deficiency was more frequent in females (55.2%) than in males (38.9%) (p = 0.003). Vitamin D deficiency was more frequent in patients with insulin resistance (58.4%) than in patients without insulin resistance (43.3%) (p = 0.007). Conclusion: This study has shown in particular that significantly low vitamin D levels are present in obese patients with insulin resistance and/or hepatosteatosis. There is a need for forward-looking, large-scale and long-term studies to verify our results. [ABSTRACT FROM AUTHOR]

Objective: There is a growing interest in the relationship between obesity and renal damage. The effect of obesity on renal function in children and adolescents has not been adequately investigated. In addition, there is no complete consensus on the reliability of various renal function parameters. The primary goal of this study was to evaluate renal function in obese children and adolescents using glomerular filtration rate (GFR), cystatin C, and creatinine (Cr)-derived formulas. We also compared classical GFR measurement methods with methods based on bioimpedance analysis-derived body cell mass (BCM). Methods: We enrolled 108 obese and 46 healthy subjects aged 6-18 years. Serum cystatin C, serum Cr, 24-hour proteinuria, Cr clearance, and GFR were evaluated in both groups. Estimated GFR was measured with Cr-based, cystatin C-based, combined (cystatin C and Cr) and BCM-based formulae. Both actual and fat-free mass body surface areas (BSA) were used when required. Metabolic parameters (blood glucose, insulin, and lipids) were analyzed in the obese subjects. International Diabetes Federation criteria were used to identify metabolic syndrome (MetS). Results: We did not detect statistically significant differences between the obese and control groups for mean Cr (p=0.658) and mean cystatin C (p=0.126). Mean cystatin C levels of MetS patients were significantly higher than those of non-MetS obese participants (p<0.001). Cr-based GFR measurements, BCM-based measurements and a combined Cr and cystatin C measurement showed a statistically significant increase in the GFR of obese subjects compared to controls (p=0.002 and p<0.001). This increase was negatively correlated with duration of obesity. Estimations based on actual or fat-free mass BSA did not differ either. Only the Filler equation showed a statistically significant decrease in eGFR in MetS patients. There were no statistically significant differences between the obese and control groups for proteinuria (p=0.994) and fat-free mass proteinuria (p=0.476). Conclusion: We conclude that cystatin C could be used as an earlier biomarker than Cr in the detection of impaired renal function in obese children, especially those with MetS. Cr-based formulae reveal hyperfiltration as the first change in renal function. Decreasing eGFR seen in MetS patients with cystatin C-based formulae, but not Cr-based formulae, may represent the early stages of renal damage. Using fat-free mass or BCM for eGFR formulae in obese children seems to provide no additional information. [ABSTRACT FROM AUTHOR]

Hypochondroplasia is a cause of disproportionate short stature and characterized by minor clinical manifestations. The aim of this study was to evaluate the efficacy of long-term growth hormone (GH) therapy in hypochondroplastic cases with inadequate response to GH stimulation tests. In this study, six patients who had a height standard deviation score of -3.43 before the treatment and a mean age of 7.42 years and who had received GH treatment at a dose of 0.2 mg/kg/week for a mean period of 4.45 years were evaluated. A good response was found in the first year of treatment, but this increase was not found to be sufficient for the patients to achieve an adequate final height. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Peutz-Jeghers syndrome (PJS) is inherited as an autosomal dominant trait characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large-cell calcifying Sertoli cell tumor (LCCSCT) is a kind of sex cord-stromal tumor which may co-exist with PJS and which is characterized radiologically by calcification foci within the testes. Surgical treatment options for this tumor range from testis-preserving surgery to radical orchiectomy. Not with standing this invasive approach, recently, there are some case reports demonstrating the efficacy of aromatase inhibitors in avoiding orchiectomy and its associated complications. In this paper, we have presented a LCCSCT case diagnosed in a boy with PJS and his response to anastrozole treatment. [ABSTRACT FROM AUTHOR]

Acute adrenal crisis is a life-threatening disorder. Cardiovascular complications of the condition are usually limited to hypovolaemic hypotension and shock. An acute reversible cardiomyopathy and heart failure in association with acute adrenal crisis is rarely reported, particularly in children. A 6-year-old girl with adrenal crisis which was complicated by acute reversible cardiomyopathy is reported. Inotropic and ventilatory support in addition to intravenous hydrocortisone and furosemide therapy were required to achieve cardiovascular stability. The cardiomyopathy resolved over 5 days and she was discharged with normal cardiac and intellectual functions. Cardiomyopathy should be considered in patients with acute adrenal crisis demonstrating any symptoms or signs of heart failure. [ABSTRACT FROM AUTHOR]

Background: Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. Subjects: The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Conclusion: Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features. [ABSTRACT FROM AUTHOR]

An abstract of the article "A Case of Pycnodysostosis with Bilateral Choanal Atresia," by Ceren Damla Durmaz and colleagues is presented.

Introduction: Androgen insensitivity syndrome (AIS) is a sex development disorder that causes varying degrees of virilization defects in 46,XY individuals. The cases diagnosed with partial AIS (PAIS) can present with many different clinical findings including ambiguous genitalia from female phenotype with cliteromegaly to male phenotype with hypospadias, cryptorchidism, azoospermia, and pubertal gynecomastia. In PAIS patients, pubertal gynecomastia can develop and affect the quality of life. There is no standard protocol for its treatment. Here, we discussed a PAIS patient with pubertal gynecomastia and the effect of tamoxifen, a pure estrogen receptor modulator, in treatment. Case: The patient admitted to our clinic at 3.2 years of age with ambiguous genitalia and his physical examination revealed Sinnecker stage 3 genital phenotype. Gonads were bilateral testis, internal genitalia were male, and karyotype was 46,XY. There was no testosterone synthesis problem that was revealed with human chorionic gonadotropin stimulation test (stimulated total testosterone: 532 ng/dL). Androgen receptor gene analysis showed two silent mutations (no amino acid changes) in exon 1 (p.Glu213Glu) and exon 7 (p.Ile817Ile). Corrective operations for cryptorchidism and hypospadias were performed and testosterone and dihydrotestosterone gel were used for the treatment of micropenis. When the patient was 12.3 years old, bilateral gynecomastia was observed at stage T3. At 13.5 years old, gynecomastia advanced to stage T4 and tamoxifen treatment 20 mg/day was started. After six months of the therapy, the dose was increased to 40 mg/day. At the 7th month of treatment, a dramatic regression of gynecomasty was observed. Results: In PAIS patients with pubertal gynecomastia, difficulties in treatment may be observed. Surgery is not recommended because of the side effects such as skin retraction, hypertrophic scar, hypesthesia, and skin excess. Tamoxifen treatment can be an effective therapeutic option especially in PAIS patients with significant pubertal gynecomastia. [ABSTRACT FROM AUTHOR]

Background/aims: The aim of this study is to figure out defecation features, constipation frequency, reasons and factors effecting on functional constipation in 0-6 years old children., Material and Methods: This descriptive study had been carried out in Gazi University School of Medicine Pediatric polyclinics between February-June 2007 and 1018 children aged 0-6 years were included. The study comprises data about defecation pattern and prevalence of constipation. Children were divided into five groups according to the age. Their parents were asked to complete a structured questionnaire. Physical examinations, stool frequency according to the age, feeding patterns, age and gender distributions, major complaints and associated factors were all investigated., Results: Among 1018 children there were 526 (51.7%) boys and 492 (48.3%) girls. One hundred ninety five (88.2%) infants were exclusively breastfed, 42 children (17.8%) were getting additional feeding in 0-6 months age group. Forty-eight of 1018 children (4.7%) were diagnosed as constipated. Twenty-eight (58.3%) were male and 20 (41.7%) were female. Parents of the constipated children defined the major complaints with defecation as discomfort (33%), pain (25%), seldom defecation (21%), hard stools (17%) and rectal bleeding (4%). Eighteen parents (37.5%) thought that constipation is related to dietary type. Refraining from school toilet was defined by seven parents (14.6%)., Conclusion: Constipation may predict serious organic problems in newborns; however organic problems are not encountered in 95% of bigger children. These cases are described as functional constipation. Dietary factors and refraining from school toilets have to be considered during treatment.