Browsing by Author "Aymelek, Huri Sema"

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Autosomal Recessive Hypophosphatemic Rickets Type 2; a Novel Mutation in the Enpp1 Gene
(Turkish J Pediatrics, 2022) Bitkin, Eda Celebi; Aymelek, Huri Sema
Background. Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters. ENPP1 (ectonucleotide pyrophosphatase / phosphodiesterase 1) mutations cause autosomal recessive inheritance hypophosphatemic rickets type 2. Case. In our study, we present a novel mutation in the ENPP1 gene detected in 4 siblings in a single family. Conclusion. Our findings can be applied to further understand molecular pathogenesis and to establish a correlation between genotype and phenotype for HR.
Evaluation of Pubertal and Pathological Gynaecomastia in Children: a Single-Center Experience
(Wiley, 2021) Bitkin, Eda Celebi; Aymelek, Huri Sema; Karaman, Serap
Gynaecomastia in adolescents is a benign glandular proliferation of the male breast. Secondary causes of gynaecomastia in adolescents are relatively rare and may result from a wide variety of rare pathological conditions. Among these, klinefelter syndrome, complete androgen resistance, adrenal tumours and oestrogen-secreting testicular tumours, hypogonadism, hyperthyroidism, kidney disease and medications play a role in aetiology. The aim of our study is to review the demographic characteristics, hormone profile, aetiological characteristics of paediatric gynaecomastia patients admitted to a single center and to determine the frequency of pathological gynaecomastia. Forty-three male patients with gynaecomastia who applied to the paediatric endocrinology outpatient clinic were included in our study. Demographic characteristics, physical examination findings, hormone profile, breast ultrasonography and karyotype results of the patients were recorded. There were 43 male patients in our study. Thirty-six (83.7%) of the patients were pubertal gynaecomastia, 7 (16.2%) were pathological gynaecomastia. Three of the patients with pathological gynaecomastia were prepubertal gynaecomastia, 2 had klinefelter syndrome, 1 had hypergonadotropic hypogonadism after acute lymphoblastic leukaemia treatment and 1 had gynaecomastia after spirololactone use. Careful evaluation of patients with gynaecomastia is especially important in detecting pathological types. We reported the rare prepubertal gynaecomastia and klinefelter frequency in our study.
Identification of Three Novel Pathogenic Itga2b and One Novel Pathogenic Itgb3 Mutations in Patients With Hereditary Glanzmann's Thrombasthenia Living in Eastern Turkey
(Taylor & Francis inc, 2021) Karaman, Kamuran; Yurekturk, Eyup; Geylan, Hadi; Yasar, Akkiz Sahin; Karaman, Serap; Aymelek, Huri Sema; Oner, Ahmet Fayik
Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology and analyzes the association between mutation types and clinical findings in patients diagnosed with GT who were followed up in Department of Pediatric Hematology of the Yuzuncu Yil University School of Medicine. The medical charts of 17 patients who underwent therapy and that were followed up in the Department of Pediatric Hematology of the Yuzuncu Yil University Dursun Odabas Medical Center between January 2008 and April 2018 were reviewed retrospectively. Data on such patient characteristics as present genetic mutations, age, gender, age at diagnosis, presenting symptoms, clinical findings, and platelet count and volume were garnered from the patient records. Of the 12 patients identified with genetic mutations, six had the same type of mutation, while four were identified with novel mutations that have to date not been defined in literature. Of these four mutations, three were located in the ITGA2B gene and one in the ITGB3 gene. The present study identified no significant association between the genetic and clinical findings of the patients. Novel mutations were identified in four cases in the present study. No association was found between the mutation type, and the bleeding scores and bleeding phenotypes of the patients. Further studies involving a larger number of patients are required to determine the relationship between the genotypes and clinical findings in patients with GT.