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

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Akcan N., Uyguner O., Bas F., Altunoglu U., Toksoy G., Karaman B., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.14, sa.2, ss.153-171, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 2
  • Basım Tarihi: 2022
  • Doi Numarası: 10.4274/jcrpe.galenos.2022.2021-9-19
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.153-171
  • Anahtar Kelimeler: 46,XY disorders of sex development, 5a-reductase deficiency, androgen insensitivity syndrome, androgen receptor gene mutations, SRD5A2 gene mutations, ANDROGEN RECEPTOR GENE, 5-ALPHA-REDUCTASE TYPE-2 DEFICIENCY, SEX DEVELOPMENT, INSENSITIVITY SYNDROME, TURKISH FAMILY, DISORDERS, HYPOSPADIAS, PHENOTYPE, DIAGNOSIS, SERIES
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: 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.