Publication:
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor

dc.contributor.authorGÜRAN, TÜLAY
dc.contributor.authorsAYCAN Z., Keskin M., Lafci N. G. , Savas-Erdeve S., BAŞ F., POYRAZOĞLU Ş., Ozturk P., PARLAK M., Ercan O., GÜRAN T., et al.
dc.date.accessioned2022-12-02T13:00:05Z
dc.date.available2022-12-02T13:00:05Z
dc.date.issued2022-12-01
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.
dc.identifier.citationAYCAN Z., Keskin M., Lafci N. G. , Savas-Erdeve S., BAŞ F., POYRAZOĞLU Ş., Ozturk P., PARLAK M., Ercan O., GÜRAN T., et al., "Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor", EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.65, sa.12, 2022
dc.identifier.doi10.1016/j.ejmg.2022.104654
dc.identifier.endpage8
dc.identifier.issn1769-7212
dc.identifier.issue12
dc.identifier.startpage1
dc.identifier.urihttps://reader.elsevier.com/reader/sd/pii/S176972122200235X?token=526E2211E076D4AD9D1803B7BB046D36472015D427443147F01D83DBC659375950D5C468914F2C309996AB9D733D59D1&originRegion=eu-west-1&originCreation=20221202121449
dc.identifier.urihttps://hdl.handle.net/11424/283519
dc.identifier.volume65
dc.language.isoeng
dc.relation.ispartofEUROPEAN JOURNAL OF MEDICAL GENETICS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSağlık Bilimleri
dc.subjectTemel Bilimler
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectMedical Genetics
dc.subjectLife Sciences
dc.subjectMolecular Biology and Genetics
dc.subjectHealth Sciences
dc.subjectNatural Sciences
dc.subjectGENETİK VE KALITIM
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETICS & HEREDITY
dc.subjectMOLECULAR BIOLOGY & GENETICS
dc.subjectLife Sciences (LIFE)
dc.subjectGenetik (klinik)
dc.subjectMoleküler Biyoloji
dc.subjectGenetik
dc.subjectGenetics (clinical)
dc.subjectMolecular Biology
dc.subjectGenetics
dc.subjectTesticular adrenal rest tumor
dc.subjectCongenital adrenal hyperplasia
dc.subjectGenotype-phenotype correlation
dc.subjectADULT MALES
dc.subjectCYP21A2 MUTATIONS
dc.subjectTURKISH PATIENTS
dc.subjectCYP11B1
dc.subjectPREVALENCE
dc.subjectDEFICIENCY
dc.subjectADOLESCENT
dc.subjectGENETICS
dc.subjectOUTCOMES
dc.subjectTesticular adrenal rest tumorCongenital adrenal hyperplasiaGenotype-phenotype correlation
dc.titleGenotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor
dc.typearticle
dspace.entity.typePublication
local.avesis.id56cc5611-6b77-4be6-b2d0-2a4f5c59078d
local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atSCOPUS
relation.isAuthorOfPublicationcd5bac46-bf24-476a-80cb-1cea576c283a
relation.isAuthorOfPublication.latestForDiscoverycd5bac46-bf24-476a-80cb-1cea576c283a

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