How is Mosaic Turner Syndrome Treated?

Turner syndrome is a chromosomal condition involving a person’s gender chromosomes. Turner syndrome results when one of the X chromosomes (sex chromosomes) is missing or partially missing following conception. In mosaic Turner syndrome, an X chromosome is missing in some cells in individuals assigned female at birth.

What is Mosaic Turner Syndrome?

Chromosomes are what carry genetic information (also called DNA) from each cell throughout the human body. Each person is born with 23 pairs of chromosomes — 46 total — including one pair of sex chromosomes, X and Y.

Turner syndrome affects people who were assigned female at birth. While people assigned female at birth typically have two X chromosomes (XX), people with Turner syndrome have just one X chromosome.

Because so much genetic information is missing at such an early stage of development, Turner syndrome can cause a variety of medical and developmental concerns, including failure of the ovaries to develop, heart defects, and short height.

There are two main types of Turner syndrome:

• Monosomy X Turner syndrome: This type is defined as a complete loss of the second X chromosome.
• Mosaic Turner syndrome: This type is defined as a partial loss of the second X chromosome.

Treatment for Mosaic Turner Syndrome

While there’s no cure for Mosaic Turner syndrome, treatment aims to address whatever signs or symptoms a person with Turner syndrome is experiencing. Treatment varies by the person and their needs.

Treatment options may include:

Growth hormone therapy: Growth hormone therapy can help address short stature.

Estrogen or progesterone hormone therapy: Hormone therapy, like estrogen or progesterone therapy, may help address sexual development.

Psychological support: Psychological support, like cognitive behavioral therapy and other types of counseling, can help address depression, stress, or learning issues people with Turner syndrome may experience.

Mosaic Turner Syndrome and Fertility

Most individuals with mosaic Turner have either reduced fertility or infertility. In vitro fertilization may help address fertility issues. However, women with mosaic Turner syndrome who do become pregnant are at risk of blood pressure–related complications, which can lead to premature birth or fetal growth restriction. Pregnancy in women with Mosaic Turner Syndrome is also associated with an increased risk of maternal complications, including heart conditions like aortic dissection and aortic rupture.

To learn more about these topics and speak to one of our physicians about fertility treatment, you can request a consultation here.