5-alpha Reductase Deficiency

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5-alpha Reductase Deficiency

DiagnosisTo determine the genetic sex of a child, cells collected from a cheek-scraping, called a buccal smear, can be examined for either XX or XY chromosomes. In addition to that, a doctor would need to examine the genitals, and do an X-Ray to determine if the testes are undescended. A punnett square and a pedigree could also be examined to determine the carriers of the recessive gene.

5-alpha Reductase Deficiency

5-alpha Reductase Deficiency is an autosomal recessive condition that causes defects in male development before birth.

EffectThe individual is born with atypical genitalia. The genitalia could be completely ambiguous, predominantly female, or predominantly male but with an unusually small penis. Additionally, the testes are undescended, or inside the body rather than outside. The testes can become cancerous later in life. This condition can also cause infertility and hypospadias, which is when the urethral opening is on the underside of the penis.

Cause5-alpha Reductase Deficiency is caused by a mutation on the SRD5A2 gene, which codes for the enzyme 5-alpha reductase 2. This enzyme is responsible for processing the androgens that direct male sexual development before birth. Because of the mutation, the enzyme is not created, so testosterone is not converted to dihydrotestosterone as it usually is.

Also known as 5-ARD

Increased muscle development Pubic hair Deepening of the voice Growth spurt

It's believed that the increase in testosterone levels during puberty causes male secondary sex characteristics to appear

Living with 5-ARD A person with 5-ARD can go about their lives regularly but may experience traumatizing years during puberty due to unexpected changes, especially if it goes undiagnosed. It might be necessary to surgically remove the testes or to undergo hormone therapy. Additionally, atypical genitalia may be detrimental to a person's sex life.

Dihydrotestosterone is not necessary for female development, so genetic females do not get 5-alpha reductase deficiency

Many children with 5-alpha reductase deficiency are raised as females. About half convert to a male gender role later in life. For those who remain female, or those who have their undescended testes surgically removed, hormonal replacement therapy may be necessary.


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