September 2022 in “Annals of medicine and surgery” 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.
19 citations
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August 2018 in “Clinics in plastic surgery” This review discusses surgical techniques for facial and neck modifications in gender dysphoria and reports no new clinical outcomes.
39 citations
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October 2018 in “Aesthetic surgery journal” This review discusses nonsurgical techniques for facial masculinization and feminization in transgender patients and reports no new clinical findings, utilizing data from analogous procedures in cisgender individuals.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
October 2022 in “Endocrine journal” In this study of male patients with 46,XY 5α-reductase type 2 deficiency, DHT therapy was effective in achieving penile enlargement during infancy, while testosterone replacement therapy proved more beneficial during puberty, possibly due to increased conversion to DHT.