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., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.14, no.2, pp.153-171, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 2
  • Publication Date: 2022
  • Doi Number: 10.4274/jcrpe.galenos.2022.2021-9-19
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.153-171
  • Keywords: 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
  • Open Archive Collection: AVESIS Open Access Collection
  • Istanbul University Affiliated: Yes

Abstract

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.