5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family.
- Resource Type
- Case Study
- Authors
- Noroozi Asl, Samaneh; Ibrahimi, Reza; Bagheri, Sepideh; Lotfi, Mojtaba
- Source
- Clinical Case Reports. May2023, Vol. 11 Issue 5, p1-4. 4p.
- Subject
- *SEX differentiation disorders
*MALE reproductive organs
*GENETIC disorders
- Language
- ISSN
- 2050-0904
Key clinical message: 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred until puberty because spontaneous virilization occurs and the patient can engage in the decision‐making process. 5‐Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family. 5‐Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family. [ABSTRACT FROM AUTHOR]