Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor

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dc.authoridGönül Çatlı / 0000-0002-0488-6377en_US
dc.authorscopusidGönül Çatlı / 35783928000
dc.authorwosidGönül Çatlı / EOU-3210-2022en_US
dc.contributor.authorAycan, Zehra
dc.contributor.authorKeskin, Melikşah
dc.contributor.authorLafcı, Naz Güleray
dc.contributor.authorSavaş Erdeve, Şenay
dc.contributor.authorBaş, Firdevs
dc.contributor.authorPoyrazoğlu, Şükran
dc.contributor.authorÖztürk, Pınar
dc.contributor.authorParlak, Mesut
dc.contributor.authorErcan, Oya
dc.contributor.authorGüran, Tülay
dc.contributor.authorHatipoğlu, Nihal
dc.contributor.authorUçaktürk, Seyit Ahmet
dc.contributor.authorÇatlı, Gönül
dc.contributor.authorAkyürek, Nesibe
dc.contributor.authorÖnder, Asan
dc.contributor.authorKılınç, Suna
dc.contributor.authorÇetinkaya, Semra
dc.date.accessioned2022-12-02T07:08:53Z
dc.date.available2022-12-02T07:08:53Z
dc.date.issued2022en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractTesticular 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.en_US
dc.identifier.citationAycan, Z., Keskin, M., Lafcı, N. G., Savaş-Erdeve, Ş., Baş, F., Poyrazoğlu, Ş., ... & Çetinkaya, S. (2022). Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor. European Journal of Medical Genetics, 104654.en_US
dc.identifier.doi10.1016/j.ejmg.2022.104654en_US
dc.identifier.issn1769-7212en_US
dc.identifier.issn1878-0849en_US
dc.identifier.issue12en_US
dc.identifier.scopus2-s2.0-85141262188en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttp://dx.doi.org/10.1016/j.ejmg.2022.104654
dc.identifier.urihttps://hdl.handle.net/20.500.12713/3394
dc.identifier.volume65en_US
dc.identifier.wosWOS:000884450700002en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorÇatlı, Gönül
dc.language.isoenen_US
dc.publisherELSEVIERen_US
dc.relation.ispartofEUROPEAN JOURNAL OF MEDICAL GENETICSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectTesticular Adrenal Rest Tumoren_US
dc.subjectCongenital Adrenal Hyperplasiaen_US
dc.subjectGenotype-Phenotype Correlationen_US
dc.titleGenotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumoren_US
dc.typeArticleen_US

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