5α-Reductase 2 deficiency
Medical condition
5α-Reductase 2 deficiency
5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by mutations impairing the function of SRD5A2, a gene located on chromosome 2 and encoding the enzyme 5α-reductase type 2 (5αR2). 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. This rare deficiency causes atypical sex development in genetic males (people with a 46XY karyotype), with a broad spectrum of presentations most apparent in the genitalia. Many people with 5-alpha reductase deficiency are assigned female at birth based on their external genitalia. In other cases, affected infants are assigned male at birth based on their external genitalia, often an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias). Still other affected infants may be assigned either female or male at birth as their external genitalia do not look...
Read on Wikipedia · Image CM Broere, CC BY-SA 3.0
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