Turner Syndrome

Turner syndrome is a rare genetic disorder that affects females and is caused by the total or partial absence of an X chromosome. This alteration causes general health problems that decrease the quality of life for the patients, along with certain very characteristic physical traits.

A woman’s karyotype without genetic alterations has 46 chromosomes, with two copies of the X type, represented as 46,XX. There are different types of Turner syndrome depending on its genetic nature:

• Monosomy X or complete Turner syndrome: the second X chromosome is completely missing. That is, each cell in the body has only one copy (45,X0).
• Mosaicism or incomplete Turner syndrome: some cells contain the complete pair (46,XX), while others only have one copy of the X chromosome (45,X0).

The diagnosis can be made before birth, as some prenatal genetic tests detect this syndrome; during childhood, when certain physical traits or growth delays appear; or at puberty, as hormone production is affected.

Symptoms

Depending on the type of syndrome and its severity, symptoms vary significantly from one girl to another. Additionally, depending on the stage of development, some symptoms may stand out more than others.

Some warning signs during the fetal phase include:

• Edema (fluid accumulation) at the back of the neck.
• Abnormalities in the kidneys or heart.

The most notable features of Turner syndrome in childhood include:

• Short neck with folds due to excess skin.
• Ears positioned lower than usual.
• Low hairline at the back of the neck.
• Swelling of the hands and feet.
• Growth delay.
• Heart problems.

During adolescence and adulthood, other symptoms such as the following may appear:

• Short stature.
• Delay in the development of secondary sexual characteristics.
• Amenorrhea (absence of menstruation).
• Premature ovarian insufficiency causing infertility.

Causes

Turner syndrome is caused by a non-hereditary genetic alteration affecting the X chromosome. Each type of disorder occurs for a different reason:

• Complete Monosomy X: caused by a genetic error during the formation of the egg or sperm, which fails to transmit the sex chromosome.
• Mosaicism: caused by a failure in cell division during the early stages of fetal development.

Risk Factors

A risk factor for Turner syndrome cannot be determined. Its occurrence is only ruled out in the male sex.

Complications

Women and girls with Turner syndrome are prone to developing other conditions that, at times, may be severe. Some of the most notable complications include:

• Hypertension.
• Infertility.
• Learning difficulties.
• Hearing loss.
• Heart problems from birth.
• Renal problems due to malformations.
• Vision problems.
• Autoimmune disorders.

Prevention

Turner syndrome cannot be prevented, as it occurs spontaneously.

What Doctor Treats Turner Syndrome?

Turner syndrome is studied and diagnosed by geneticists, gynecologists, obstetricians, and endocrinologists. Additionally, due to its complexity, treatment involves cardiologists, orthopedists, urologists, otolaryngologists, ophthalmologists, or psychologists.