Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome. Herein, we report two cases with very distinctive phenotypes despite having the same sex chromosome mosaicism of 45,X/47,XYY. It should be kept in mind that the rare type of sex chromosome mosaicism of 45,X/47,XYY may present with genital phenotypes ranging from normal female to male characteristics

İzmir Dr. Behçet Uz Çocuk Hastanesi Pediatri

Obezite biyolojik, gelişimsel, davranışsal ve çevresel faktörlerin etkileşimi sonucu vücuttaki yağ oranınındaki artış ile ortaya çıkan, tek başına pek çok hastalığın etiyopatogenezine katkıda bulunan, hem ülkemizde hem de dünyada giderek artan bir sağlık sorunudur.&nbsp;</p

Comparison of Axillary and Tympanic Temperature Measurements in Children Diagnosed with Acute Otitis Media

Background. Acute otitis media [AOM] may affect the accuracy of tympanic temperature measurements. We aimed to compare tympanic temperature measurements in patients with AOM against control groups, as well as compare the tympanic temperatures with axillary thermometry. Methods. This is a prospective, observational study. Patients from pediatric outpatient and emergency clinics who were diagnosed as single-sided AOM were included consecutively in the study. Normal ears of patients and children having the same age and gender who were not diagnosed as AOM were also studied as controls. Results. In patients with AOM, infected ears had higher temperatures than normal ears with a mean of 0.48±0.01°C. There was no significant difference between the right and left tympanic temperatures in control group. Compared with axillary temperature, the sensitivity of tympanic temperature in the infected ear was 91.7% and the specificity was 74.8%. Conclusion. Comparisons of axillary and tympanic temperatures in children with AOM during the active infection concluded higher tympanic temperatures in infected ears. We suggest that the higher tympanic temperatures, approximately 0.5°C in our study, in infected ears may aid in diagnosis of patients with fever without a source in pediatric clinics

Evaluation of Serum Advanced Glycation End Product Levels and Microvascular Complications in Children and Adolescents with Type 1 Diabetes Mellitus

Objective: Advanced glycation end products (AGEs) are irreversible macromolecules formed by nonenzymatic reactions due to chronic hyperglycemia. The aim of this study was to assess the relationship between AGEs and the microvascular complications of children and adolescents with type 1 diabetes mellitus (T1DM). Materials and Methods: Twenty-six T1DM patients with microvascular complications and 58 complication-naive patients who were similar regarding age, sex, and pubertal status enrolled in the study. Anthropometric, biochemical, ophthalmologic, and neurologic variables were compared with serum AGEs levels by the fluorescence method. Results: There was no significant difference observed between the patients with complications and those without complications in terms of serum levels of AGEs and other biochemical parameters. However, the duration of T1DM and urine microalbumin–creatinine ratio (uACR) were significantly higher in the complication-positive group (P .05). However, patients with nephropathy had significantly higher serum levels of AGEs than patients without complications (P = .023). In addition, there was a significant positive correlation between serum AGEs levels and uACR (P = .042) but not other parameters (P > .05). Conclusion: This study is the first to evaluate the association between serum AGEs levels and microvascular complications in children and adolescents with T1DM. Our study highlights that serum AGEs levels are significantly correlated with nephropathy but not with retinopathy and neuropathy. Further long-term studies with a larger sample size are required to establish a better relationship between diabetic complications and AGEs

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes

Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. Materials and methods: This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing. To confirm and detect the status of the specific familial variant in relatives, Sanger sequencing was also performed. Results: We identified 12 possible pathogenic variants in GHRHR, GH1, GLI2, PROP-1, POU1F1, and LHX4 in 11 patients (23.4%), of which six were novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR. Conclusion: Genetic causes were determined in only 23.4% of all patients with CH and 63% of molecularly diagnosed patients (7/11) from consanguineous families. Despite advances in genetics, we were unable to identify the genetic etiology of most patients with CH, suggesting the effect of unknown genes or environmental factors. More genetic studies are necessary to understand the etiology of CH

Evaluation of brain MRI lesions in 381 girls with central precocious puberty

Central precocious puberty (CPP) in girls is a diagnosis increasingly made by the Pediatric Endocrinologists worldwide. Although it is most frequently of idiopathic origin, magnetic resonance imaging (MRI) of the brain is recommended to rule out organic lesions causing CPP. However, controversy exists regarding the age limits for routinely performing MRI in girls with CPP. Objective: To evaluate the outcome of brain MRI in girls diagnosed with CPP and its relationship with age and clinical and biochemical parameters. Method: A single-center, study of 381 girls with CPP who had brain imaging performed between 2008-2018. The results of imaging were categorised as Group 1:Normal, Group 2: incidental CNS lesions, Group 3: previously known CNS lesions Group 4: newly identified CNS lesions. Clinical and biochemical features of four groups were compared. Additionally, MRI lesion frequency was determined based on three age categories (8 years) Results: MRI findings were abnormal in 73 patients (19%). 18 girls (4.7%) had well known brain pathologies at the time of referral. In the remaining 363 girls with CPP, who had no CNS symptoms, MRI revealed CNS abnormalities in 55 girls. In 34 girls (8.9%) MRI findings were considered as incidental findings, which were not related to the early puberty. Another 21 girls (5.5%) had newly identified MRI abnormalities which were considered to be causally related to CPP. Among these, 19 lesions were non-neoplastic and included arachnoid cysts (6) pineal cysts (4) hydrocephaly (2) Chiari Type2 malformation (1) Dandy-Walker malformation(1) and others (5) not requiring surgical intervention during follow-up. There were only 2 tumoral lesions (0.5%) in the cohort (1 hamartoma and 1 glioma) and they required surgical intervention. These two cases were the youngest of the entire cohort (1.0 and 2.7 years of age respectively) and had the highest baseline LH and Estradiol levels. Otherwise, clinical and biochemical parameters were similar in 4 groups. Newly identified CNS lesions were detected throughout all ages including those above 8 years (Table). Conclusion: Although CNS lesions can be detected throughout all age categories in girls with CPP, only 5.5 % are causally related and most of them do not require intervention. CPP due to neoplastic lesions are detected in younger patients who also had a robust activation of pituitary-gonadal axis