Browsing by Author "Poyrazoglu, Sukran"

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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.
Hormonal Control During Infancy and Testicular Adrenal Rest Tumor Development in Males with Congenital Adrenal Hyperplasia: A Retrospective Multicenter Cohort Study
(2023) Schroder, Mariska A. M.; Neacsu, Mihaela; Adriaansen, Bas P. H.; Sweep, Fred C. G. J.; Ahmed, S. Faisal; Ali, Salma R.; Bachega, Tania A. S. S.; Baronio, Federico; Birkebaek, Niels Holtum; de Bruin, Christiaan; Bonfig, Walter; Bryce, Jillian; Clemente, Maria; Cools, Martine; Elsedfy, Heba; Globa, Evgenia; Guran, Tulay; Guven, Ayla; Amr, Nermine Hussein; Janus, Dominika; Taube, Nina Lenherr; Markosyan, Renata; Miranda, Mirela; Poyrazoglu, Sukran; Rees, Aled; Salerno, Mariacarolina; Stancampiano, Marianna Rita; Vieites, Ana; de Vries, Liat; Abali, Zehra Yavas; Span, Paul N.; Claahsen-van der Grinten, Hedi L.; 0000-0002-2026-1326; 37837609; I-8448-2019
Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development. Objective: This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. Design and participants: This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. Results: TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. Conclusions: and relevance A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life.
An International Study of the Association between Local Health Care Resources and Acute Adrenal Insufficiency Events in Children with Congenital Adrenal Hyperplasia
(2022) Tseretopoulou, Xanthippi; Ali, Salma R.; Bryce, Jillian; Navoda, Atapattu; Birkebaek, Niels H.; Baronio, Federico; Bonfig, Walter; Claahsen-van der Grinten, Hedi L.; Cools, Martine; Darendeliler, Feyza; Poyrazoglu, Sukran; de Sanctis, Luisa; Elsedfy, Heba; Finken, Martijn J. J.; Fluck, Christa E.; Gevers, Evelien; Korbonits, Marta; Guran, Tulay; Guven, Ayla; Hughes, Ieuan A.; Tadokoro-Cuccaro, Rieko; Thankamony, Ajay; Iotova, Violeta; Krone, Ruth; Lichiardopol, Corina; Mendonca, Berenice B.; Bachega, Tania A. S. S.; Miranda, Mirela C.; Milenkovic, Tatjana; Mohnike, Klaus; Nordenstrom, Anna; van der Kamp, Hetty J.; Ahmed, Syed Faisal