Yazar "Comlek, Fatma Ozguc" seçeneğine göre listele

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    The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
    (Galenos Yayincilik, 2021) Yalcintepe, Sinem; Comlek, Fatma Ozguc; Gurkan, Hakan; Demir, Selma; Atli, Emine Ikbal; Atli, Engin; Eker, Damla
    Objective: The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics of monogenic diabetes and MODY in the Trakya Region of Turkey. Methods: A panel of 20 monogenic diabetes related genes were screened in 61 cases. Illumina NextSeq550 system was used for sequencing. Pathogenicity of the variants were assessed by bioinformatics prediction software programs and segregation analyses. Results: In 29 (47.5%) cases, 31 pathogenic/likely pathogenic variants in the GCK, ABCC8, KCNJ11, HNF1A, HNF4A genes and in 11 (18%) cases, 14 variants of uncertain significance (VUS) in the GCK, RFX6, CEL, PDX1, KCNJ11, HNF1A, G6PC2, GLIS3 and KLF11 genes were identified. There were six different pathogenic/likely pathogenic variants and six different VUS which were novel. Conclusion: This is the first study including molecular studies of twenty monogenic diabetes genes in Turkish cases in the Trakya Region. The results showed that pathogenic variants in the GCK gene are the leading cause of MODY in our population. A high frequency of novel variants (32.4%-12/37) in the current study, suggests that multiple gene analysis provides accurate genetic diagnosis in MODY.
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    Clinical and Laboratory Features at the Onset of Childhood Type 1 Diabetes Mellitus in the Nortwest Region (Trakya) of Turkey
    (Karger, 2018) Dilek, Emine; Bezen, Digdem; Comlek, Fatma Ozguc; Ozkaya, Beyhan; Tutunculer, Filiz
    [Abstract Not Available]
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    Etiologies of Short Stature in Pedaitric Endocrine Clinic in Northwest Region (Trakya) of Turkey
    (Karger, 2018) Ozkaya, Beyhan; Dilek, Emine; Bezen, Digdem; Comlek, Fatma Ozguc; Tutunculer, Filiz
    [Abstract Not Available]
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    Exogenous Cushing syndrome due to misuse of potent topical steroid
    (Wiley, 2018) Comlek, Fatma Ozguc; Orum, Sevim; Aydin, Salih; Tutunculer, Filiz
    We report an infant with exogenous Cushing syndrome after being treated for 2months with a potent topical corticosteroid via the mother's application of topical clobetasol for diaper rash without a prescription. We emphasize that potent topical steroids should be used with great caution, especially when used under occlusion (e.g., diaper area) and that parents should be warned about potential side effects of these medications, particularly when used in infants.
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    Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene
    (Oxford Univ Press, 2021) Comlek, Fatma Ozguc; Yildiz, Raif; Seyrek, Fatma; Tutunculer, Filiz
    Leydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay. We reported a case with a predefined mutation in the LHCGR gene, presenting with swelling in the inguinal region and therefore diagnosed in early childhood. We wanted to emphasize the necessity of keeping Leydig cell hypoplasia in mind in the differential diagnosis of sexual development disorders in early childhood.