5α-reductase deficiency

5α-Reductase deficiency is a rare genetic disorder that affects the enzyme 5α-reductase, which is responsible for converting testosterone into its more potent form, dihydrotestosterone (DHT). This condition is characterized by a partial or complete inability of the body to metabolize testosterone into DHT, leading to a range of physical and physiological abnormalities.

Causes[edit | edit source]

5α-Reductase deficiency is caused by mutations in the SRD5A2 gene, which provides instructions for making the 5α-reductase enzyme. This enzyme plays a crucial role in male sexual development before birth. The SRD5A2 gene mutations that cause 5α-reductase deficiency lead to the production of an enzyme with reduced or no activity.

Symptoms[edit | edit source]

The symptoms of 5α-reductase deficiency can vary widely, even among individuals in the same family. Affected individuals typically have ambiguous genitalia, which means that the external genitals do not look clearly male or clearly female. In some cases, affected individuals may have normal male external genitals but may have other physical abnormalities that are typically associated with female development.

Diagnosis[edit | edit source]

Diagnosis of 5α-reductase deficiency is based on clinical findings, hormone testing, and molecular genetic testing of the SRD5A2 gene. Hormone testing can reveal elevated levels of testosterone and decreased levels of DHT. Molecular genetic testing can identify mutations in the SRD5A2 gene.

Treatment[edit | edit source]

Treatment for 5α-reductase deficiency is focused on addressing the specific symptoms and needs of each individual. This may include hormone replacement therapy, surgery to correct ambiguous genitalia, and psychological support.