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In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.

This case report emphasizes the importance of early diagnosis of Swyer Syndrome in adolescents with slow pubertal progression and primary amenorrhea due to the high risk of germ cell cancers.