What is DHT deficiency?
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, female appearing genitalia, hypospadias, penile urethra, and isolated micropenis.
What is the role of 5a reductase?
The enzyme 5-alpha reductase is present in small amounts in muscle and converts testosterone to dihydrotestosterone (DHT). Testosterone affects lean body tissue, muscle size, muscle strength, and sexual function in men.
Which of the following is a characteristic of 5-alpha-reductase deficiency?
During puberty, individuals with 5-alpha reductase deficiency often develop some secondary male sex characteristics like increased muscle mass, deepening voice, and growth of male external genitalia, but most of these men are not able to have children.
Where is 5a reductase found?
The conversion of testosterone to dihydrotestosterone is catalyzed by the enzyme 5α-reductase (5AR), which exists in 2 forms: Type 1 and Type 2, both of which are found in the prostate. Type 1 is produced primarily in liver and skin and is carried to the prostate via the systemic circulation.
What increased 5-alpha reductase?
In women, increased 5α-reductase activity has been associated with idiopathic hirsutism (28), androgenic alopecia (29), and acne (30). Increased 5α-reductase activity in specific tissues, such as the skin (31) and ovary (21), has been reported in women with PCOS.
What is 5a DHT?
5a-DHT is a testosterone metabolite. – If testosterone levels become too high, it usually results in excess of 5a-DHT, an androgen hormone and sex steroid. Both testosterone and 5a-DHT in excessive amounts can lead to a number of health issues.
What does inhibiting 5-alpha reductase do?
5-alpha-reductase inhibitors are a group of drugs that are used in the treatment of an enlarged prostate gland (benign prostatic hyperplasia) and male pattern hair loss.
What is the action of 5-alpha reductase inhibitors?
Thus, 5-alpha reductase inhibitors (5-ARIs) effectively reduce the serum and intraprostatic concentration of DHT, causing an involution of prostate tissue. Two 5-ARIs are currently available for the treatment of BPH—finasteride and dutasteride.
Is 5-alpha-reductase deficiency hereditary?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the SRD5A2 gene in each cell have a mutation.
Is there a treatment for 5-alpha-reductase deficiency?
In patients with 5-alpha-reductase deficiency who are raised female, estrogen replacement therapy should be initiated at a bone age of 12 years or once an increase in gonadotropins is observed. The dose is tailored to reach adult replacement levels over a 3-4 year range.