5α-Reductase 2 deficiency
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5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2 (5αR2). The condition is rare, affects only genetic males, and has a broad spectrum.
5α-Reductase 2 deficiency | |
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Other names | 5-alpha reductase deficiency, Pseudovaginal perineoscrotal hypospadias[1] 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.[2] |
Biochemistry; testosterone biosynthesis, pathology in 5 alpha-reductase deficiency. | |
Specialty | Medical genetics |
Causes | Mutations in the SRD5A2 gene.[1] |
5αR2 is expressed in specific tissues and catalyzes the transformation of testosterone (T) to 5α-dihydrotestosterone (DHT). DHT plays a key role in the process of sexual differentiation in the external genitalia and prostate during the development of the male fetus. 5αR2D is a result of impaired 5αR2 activity resulting in decreased DHT levels. This defect results in a spectrum of phenotypes including overt genital ambiguity, hypospadias, and micropenis. Affected males still develop typical masculine features at puberty (deep voice, facial hair, muscle bulk) since most aspects of pubertal virilization are driven by testosterone, not DHT.
Management of this condition in the context of sex assignment is a challenging and controversial area. Diagnostic availability, local laws, and parental anxiety all play roles in treatment decisions.
The investigation of 5αR2D as a disease has played a key role in the biochemical characterization of the SRD5A2 gene, the 5αR2 enzyme, and DHT in male sexual differentiation.