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Book

5-Alpha-Reductase Deficiency

Gopi Kumar  1 , Joshuan J. Barboza-Meca  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

5-Alpha-Reductase Deficiency

Gopi Kumar et al.
Free Books & Documents

Excerpt

Ambiguous genitalia is a very rare problem encountered in newborns, with a prevalence of 1 in 4500 live births. Even with the recent advances in technology like genetic workup, an assay of hormones, and karyotyping, only 20% to 40% of the time can the diagnosis be made in these children. 5-alpha-reductase type 2 (5α-RD2) deficiency is one of the important causes of ambiguous genitalia in children. The phenotype of children with 5α-RD2 deficiency can vary from underdeveloped male genitalia to a complete female phenotype.

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Conflict of interest statement

Disclosure: Gopi Kumar declares no relevant financial relationships with ineligible companies.

Disclosure: Joshuan Barboza-Meca declares no relevant financial relationships with ineligible companies.

References

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