SRD5A2 : steroid 5 alpha-reductase 2

Description

The SRD5A2 gene provides instructions for making an enzyme called steroid 5 alpha-reductase type 2. This enzyme is crucial for the production of dihydrotestosterone (DHT), a potent androgen hormone that plays a vital role in male sexual development during fetal life and puberty. DHT is responsible for the development of male external genitalia, prostate growth, and male hair patterns. While primarily known for its role in male development, SRD5A2 also influences female reproductive health. It is involved in the production of testosterone, which is converted into estrogen in females.

Associated Diseases

• **Androgen Insensitivity Syndrome (AIS):** A condition where the body is unable to respond to androgens, leading to female external genitalia despite having XY chromosomes.
• **5α-Reductase Deficiency:** A rare genetic disorder causing incomplete masculinization in males. Individuals with this condition may have ambiguous genitalia at birth, and their secondary sexual characteristics may develop differently.
• **Prostate Cancer:** Research suggests a possible link between variations in SRD5A2 and the risk of prostate cancer.
• **Hair Loss (Androgenetic Alopecia):** Variations in SRD5A2 might contribute to male pattern baldness.
• **Benign Prostatic Hyperplasia (BPH):** The enzyme produced by SRD5A2 is involved in the growth of the prostate, and changes in its activity may contribute to BPH.

Did you know?

The SRD5A2 gene has been linked to the evolution of human hairlessness, suggesting a role in the adaptation of our species.