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In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.

This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.

This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.

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 review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.