Browsing by Author "Akyurek, Nesibe"

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    Early Breast Development In Girls: The Power Of Greyscale Sonography And Sonoelastography
    (Başkent Üniversitesi Sağlık Biimleri Fakültesi, 2024-02-27) Keceli, Merter; Akyurek, Nesibe
    Objective: Accurate distinction between central pubertal precociousness (PP) and premature thelarche (PT) is important to guide treatment. Both greyscale ultrasonography (US) and sonoelastography can be used to examine breast tissue. The aim of this study is to investigate the performance of breast US and strain elastographic (SE) in the diagnosis of increased breast volume in girls. Methods: Sixty-three girls with breast development up to 8 years of age and diagnosed with PP and PT were included in the prospective study. Basal luteinizing hormone (LH), follicle-stimulating hormone (FSH), and estradiol (E2) values were obtained. Each bud was considered as a unit in US. Mediolateral (ML) and anteroposterior diameters (AP) were measured, and US grading was performed. Breast SE was examined, and strain index (SI) was calculated. US and laboratory findings were compared. Results: Of the 121 buds examined, 39 (32.2%) were with PP (6.97 +/- 2.44 years) and 82 (67.8%) were with PT (6.51 +/- 2.52 years). Diameters were correlated with bone age, LH, FSH, and US grade. The mean AP showed a moderate difference in favour of PP between the groups (P < .06). The mean ML was higher in PP (P < .01). There was a difference in mean SI values (P < .004). Sensitivity and specificity were 71% and 61% for ML and 72% and 56% for SI, respectively. Conclusion: Both ML and US grading may help discriminate PP from PT. The role of sonoelastography requires further investigation.
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    Genotype Of Congenital Adrenal Hyperplasia Patients With Testicular Adrenal Rest Tumor
    (2022) Aycan, Zehra; Keskin, Meliksah; Lafci, Naz Guleray; Savas-Erdeve, Senay; Bas, Firdevs; Poyrazoglu, Sukran; Ozturk, Pinar; Parlak, Mesut; Ercan, Oya; Guran, Tulay; Hatipoglu, Nihal; Ucakturk, Seyit Ahmet; Catli, Gonul; Akyurek, Nesibe; Onder, Asan; Kilinc, Suna; Cetinkaya, Semra; 36343887
    Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART.Method: Among 230 malepatients with CAH who were followed upwith regular scrotal ultrasonography in 11 different centers in Turkey, 40 patients who developed TARTand whose CAH diagnosis was confirmed by genetic testing were included in this study. Different approaches and methods were used for genotype analysis in this multicenter study. A few centers first screened the patients for the ten most common mutations in CYP21A2 and performed Sanger sequencing for the remaining regions only if these prior results were inconclusive while the majority of the departments adopted Sanger sequencing for the whole coding regions and exon-intron boundaries as the primary molecular diagnostic approach for patients with either CYP21A2 orCYP11B1 deficiency. The age of CAH diagnosis and TART diagnosis, type of CAH, and identified mutations were recorded.Results: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) deficiency]. The youngest patients with TART presenting with CYP11B1 and CYP21A2 deficiency were of 2 and 4 years, respectively. Eight different pathogenic variants in CYP21A2were identified. The most common genotypes were c.293-13C>G/c.293-13C>G (31%) followed by c.955C>T/ c.955C>T(27.6%) and c.1069C>T/c.1069C>T (17.2%). Seven different pathogenic variants were identified in CYP11B1. The most common mutation in CYP11B1 in our study was c.896T>C (p.Leu299Pro).Conclusion: We found that 83% TART patients were affected with SW typeCYP21A2 deficiency,and the frequent mutations detected were c.955C>T (p.Gln319Ter), c.293-13C>G in CYP21A2 and c.896T>C (p.Leu299Pro) inCYP11B1. Patients with CYP11B1 deficiency may develop TART at an earlier age. This study that examined the genotype-phenotype correlation in TART may benefit further investigations in larger series.