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    Clinical and molecular characteristics of 26 patients with P450 oxidoreductase deficiency: A multicenter study
    (Karger, 2024) Yildiz, Melek; Demirel, Ozge Bayrak; Cayir, Atilla; Unal, Edip; Aslanger, Ayca Dilruba; Kaygusuz, Sare Betul; Kahveci, Ahmet
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    Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study
    (Karger, 2024) Cayir, Atilla; Turan, Serap; Eklioglu, Beray Selver; Bayramoglu, Elvan; Unal, Edip; Yildiz, Melek; Acar, Sezer
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    Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study
    (Karger, 2022) Cayir, Atilla; Demirbilek, Huseyin; Turkyilmaz, Ayberk; Turan, Serap; Bereket, Abdullah; Darendeliler, Feyza; Ozbek, Mehmet Nuri
    [Abstract Not Available]
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    Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis
    (Karger, 2024) Unal, Edip; Unal, Aysel Tekmenuray; Cayir, Atilla; Cakir, Esra Deniz Papatya; Beyazit, Nurcan; Kolbasi, Baris; Tosun, Busra Gurpinar
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    Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis [2]
    (Endocrine Soc, 2025) Unal, Edip; Tekmenuray-Unal, Aysel; Cayir, Atilla; Papatya Cakir, Esra Deniz; Beyazit, Nurcan; Kolbasi, Baris; Gurpinar Tosun, Busra
    Context Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited. Objective To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9. Methods We retrospectively analyzed data of 46,XX/SRY-negative individuals with SOX9 upstream duplications. Clinical data were recorded, and genetic etiologies were investigated using karyotyping, fluorescence in situ hybridization (FISH) for SRY analysis, microarray analysis, multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing panels including whole genome sequencing. Results We analyzed 12 individuals with 46,XX karyotype who had heterozygous duplications upstream of SOX9, ranging from 107 to 941 kb. Ages at diagnosis ranged from 0.1 to 55 years. Seven (58%) had testicular/ovotesticular DSD, while 5 (41%) were asymptomatic carriers detected through family screening. There was no significant correlation between duplication size and genital/gonadal phenotype. The duplication was inherited from the father (n = 3) or an asymptomatic mother (n = 2). In one family, a duplication missed by the 300K microarray was detected by MLPA and confirmed with 750K microarray. Conclusion 46,XX individuals with SOX9 upstream duplications may exhibit no symptoms, but thorough family screening is crucial due to the potential inheritance and testicular/ovotesticular DSD risk in subsequent generations. We emphasize the effectiveness of high-resolution microarray analysis (>500K) as the primary diagnostic tool for 46,XX/SRY-negative testicular/ovotesticular DSD individuals, enabling thorough genome-wide assessment of copy number variations and detecting small alterations.
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    A rare cause of primary amenorrhea: LHCGR gene mutations
    (Elsevier, 2022) Karakaya, Amine Aktar; Cayir, Atilla; Unal, Edip; Bestas, Asli; Solmaz, Asli Ece; Haspolat, Yusuf Kenan
    Introduction: The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene.Materials and methods: The ages, complaints, anthropometric measurements and hormonal results (follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone) of the patients at the time of admission were recorded retrospectively from their medical records. The mutations in the LHCGR gene were investigated using the Sanger sequencing method.Findings: In this study, LHCGR gene mutations were detected in a total of nine patients as a result of the analysis of the index patients presenting with primary amenorrhea from four different families and the examination of the families. In the first three families with no consanguinity between, the same mutation was detected in seven patients in total (Homozygous c.161 + 4A > G). A different mutation was detected in the fourth family (Homozygous p.A483D c.1448C > A).Conclusion: In this study, nine patients with karyotype 46,XY, most of whom presented with the complaint of delayed puberty/primary amenorrhea, were diagnosed with LCH. Especially in patients, in whom the elevation of LH is pronounced and there is no testosterone synthesis, LCH should be considered.