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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

dc.contributor.authorBas, Firdevs
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorToksoy, Guven
dc.contributor.authorKaraman, Birsen
dc.contributor.authorAvci, Sahin
dc.contributor.authorAbali, Zehra Yavas
dc.contributor.authorPoyrazoglu, Sukran
dc.contributor.authorAghayev, Agharza
dc.contributor.authorKaraman, Volkan
dc.contributor.authorBundak, Ruveyde
dc.contributor.authorBasaran, Seher
dc.contributor.authorDarendeliler, Feyza
dc.contributor.authorAkcan, Nese
dc.contributor.authorUyguner, Oya
dc.date.accessioned2022-07-04T14:28:14Z
dc.date.available2022-07-04T14:28:14Z
dc.date.issued2022
dc.identifier.citationAkcan N., Uyguner O., Bas F., Altunoglu U., Toksoy G., Karaman B., Avci S., Abali Z. Y. , Poyrazoglu S., Aghayev A., et al., "Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD", JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.14, sa.2, ss.153-171, 2022
dc.identifier.issn1308-5727
dc.identifier.otherav_7a009f4a-9f3b-4611-80bd-4c0353561dd4
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/183399
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/7a009f4a-9f3b-4611-80bd-4c0353561dd4/file
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2022.2021-9-19
dc.description.abstractObjective: Androgen insensivity syndrome (AIS) and 5 alpha-reductase deficiency (5 alpha-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5 alpha-RD.
dc.language.isoeng
dc.subjectEndocrinology, Diabetes and Metabolism
dc.subjectDahili Tıp Bilimleri
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectPEDİATRİ
dc.subjectTıp
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectEndocrinology
dc.subjectEndocrine and Autonomic Systems
dc.subjectPediatrics
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectSağlık Bilimleri
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.titleMutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
dc.typeMakale
dc.relation.journalJOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume14
dc.identifier.issue2
dc.identifier.startpage153
dc.identifier.endpage171
dc.contributor.firstauthorID3433948


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