What happens in 5-alpha reductase deficiency?

Summary. 5-alpha-reductase deficiency that a congenital disorder that affects male sexual development. People with 5-alpha-reductase deficiency may appear to be biologically female at birth but will develop male genitals during puberty. It is a rare inherited condition caused by the mutation of the SRD5A2 gene.

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.

What is the function of 5 A reductase?

Brief Summary: 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.

Are people with 5-alpha reductase deficiency fertile?

Females homozygous for the 5α-reductase-2 mutation have been observed to have normal development of internal and external genitalia. They have reduced body hair, delayed menarche and are fertile with unremarkable gonadotropin levels; two of the three homozygous females gave birth to twins (14).

Is 5-alpha reductase deficiency common?

5-alpha reductase deficiency is a rare condition; the exact incidence is unknown. Large families with affected members have been found in several countries, including the Dominican Republic, Papua New Guinea, Turkey, and Egypt.

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.

How is DHT deficiency treated?

How to reduce DHT

  1. Finasteride (Proscar, Propecia) is an oral, prescription-only medication.
  2. Biotin, or vitamin H, is a natural B vitamin that helps turn some of the food and liquids you consume into energy your body can use.
  3. Pygeum is an herb that’s extracted from the bark of the African cherry tree.

What is DHT deficiency?

DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth. Many people with 5-alpha reductase deficiency are born with external genitalia that appear female.

What is a common side effect of 5 alpha reductase inhibitors?

Decreased sexual desire. Impotence, which is trouble getting and keeping an erection. Ejaculatory disorder, which is a problem with ejaculating at the time of climax. Gynecomastia, which is enlargement of breast tissue in men.

Where is 5-alpha 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.

How do you increase DHT?

You can increase it by exercising, losing excess fat, and consuming healthier dietary fats and zinc. Too much DHT may contribute to male pattern baldness, depression and hair growth in women, and prostate enlargement.

What does 5-alpha reductase deficiency look like?

Many people with 5-alpha reductase deficiency are born with external genitalia that appear female. In other cases, the external genitalia do not look clearly male or clearly female (sometimes called ambiguous genitalia).