Can people with 5-alpha-reductase deficiency have children?
Can people with 5-alpha-reductase deficiency have children?
Unlike many men, people with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected individuals are unable to have biological children without assisted reproduction. Children with 5-alpha reductase deficiency are often raised as girls.
Is there treatment for 5-alpha reductase?
Higher dose therapy (250-500 mg 1-2 times per week given for 6-36 mo) has been used in pubertal or postpubertal patients. 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.
What is the normal function of 5-alpha 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.
Who is affected by 5-alpha reductase deficiency?
5-alpha reductase deficiency is an inherited condition that primarily affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes).
Is it normal for a woman to be homozygous for 5 alpha reductase?
Females homozygous for 5-alpha-reductase type 2 deficiency have very subtle manifestations, such as delayed menarche, minimal acne, and minimal body hair.Fertility is normal in females.
Why do people with 5α reductase deficiency have testicles?
It is a relatively common form of genital ambiguity caused by undervirilization of genetic males due to several different intersex conditions. Individuals with 5-ARD are born with male gonads, including testicles and Wolffian structures.
Where are the 5 alpha reductase testes located?
The urethra may empty anywhere from the tip of the phallus to the perineum, with the latter observed more frequently. The testes are usually in the inguinal canals bilaterally; however, in some individuals with 5-alpha-reductase type 2 deficiency, the testes can be found in the labioscrotal folds or retained in the abdomen.