XX Male Syndrome

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Overview

XX male syndrome is a description for an individual who appears like a normal male but actually has female chromosomes. There are two different types of XX male syndromes:

  • Individuals with detectable SRY genes
  • Individuals without detectable SRY genes (where the gender determines region Y)

In this case, SRY is the basic genetic switch that helps determine whether the development will be a male or not.

Causes

The SRY gene causes the syndrome, which is a translocation between the Y and X chromosomes. This occurs when part of an individual chromosome breaks off and switches place with the part of the other chromosome.

This causes the XX chromosome embryo to translocate SRY gene. As a result of which an individual develops male physical characteristics, but the chromosome remains female.

According to scientists, the alteration and mutation of the genes involved in the development of the gender causes a female person to develop male physical characteristics.

Also, some studies show how autosomal dominant and recessive can be inherited for XX male.

Symptoms

Males with SRY XX male syndrome are identified as males. They have male physical features, including a regular male body with testicles and genitals.

Males with XX male syndrome are naturally infertile as they do not have Y chromosomes that are involved in sperm-making. Also, they are usually shorter than average males, mostly because they are missing certain genes involved in height development.

In rare cases, some males may even have abnormally long legs and small testes.  

Diagnosis

Most diagnoses are carried at birth if the syndrome is suspected. Males with XX male syndrome are born with hypospadias, ambiguous genitalia, and/or undescended testicles.

For individuals who are not diagnosed at birth often come to figure out the syndrome when they hit puberty and start developing breasts. However, not every individual may experience this and only get a diagnosis of XX male syndrome when they are trying to have children.

Genetic testing can be carried out to find out the presence of SRY genes.

Treatment

For individuals with XX male syndrome, and normal testicles and genitals, treatments may not be necessary. Affected males with undescended testicles or hypospadias may need multiple surgeries to fix the condition.

In individuals with severe gynecomastia, surgery for breast reduction is also possible. In rare cases, surgery for removing gonads may be required to keep them from becoming cancerous.

Parents of affected children or individual themselves who are aware of their condition require both educational and emotional support. For younger children, parents can seek professional help to explain to them about the condition. Other pharmacotherapies include treatment for inducing male hormone testosterone to boost male sex characteristics, such as growing facial hair and deepening of the voice.

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