Published: 18 Jun 2025

ICD9: 758.6      ICD10: Q96.9      ICD11: LD50.0

Turner Syndrome is a chromosomal disorder that affects only females.
It occurs when one of the X chromosomes (sex chromosomes) is missing or partially missing.

Here's a breakdown of what that means and its implications:

The Basics:

Chromosomes and Sex Determination: Humans typically have 46 chromosomes arranged in 23 pairs. One of those pairs are the sex chromosomes, which determine biological sex. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY).

Turner Syndrome Cause: In Turner Syndrome, one of the X chromosomes is either completely missing (monosomy X, represented as 45,X), partially missing, or structurally abnormal. Sometimes, mosaicism occurs, where some cells have the normal XX chromosome arrangement, and others have the Turner Syndrome arrangement.

Key Characteristics and Symptoms:

The severity of symptoms can vary widely among individuals with Turner Syndrome. Some common features include:

Short Stature: Often noticeably shorter than their peers, even in childhood.
Ovarian Insufficiency/Infertility: Most individuals with Turner Syndrome experience premature ovarian failure. This can lead to infertility and a lack of estrogen production. Puberty may not occur naturally or may be incomplete. Hormone replacement therapy is usually needed.
Heart Defects: Congenital heart defects are common, particularly coarctation of the aorta (narrowing of the aorta).
Lymphedema: Swelling, particularly in the hands and feet, due to problems with the lymphatic system. This may be present at birth or develop later.
Webbed Neck: Excess skin folds on the sides of the neck.
Low-Set Ears: Ears that are positioned lower than normal on the head.
High, Narrow Palate: The roof of the mouth is shaped differently.
Kidney Problems: Structural kidney abnormalities are possible.
Learning Difficulties: While intelligence is usually normal, some individuals may experience challenges with nonverbal learning, such as math, spatial reasoning, and social skills.

Diagnosis:

Prenatal Diagnosis: Can be suspected during pregnancy through prenatal screening tests (e.g., non-invasive prenatal testing or NIPT) or diagnostic tests like amniocentesis or chorionic villus sampling (CVS).
Postnatal Diagnosis: Suspected in infancy or childhood based on physical characteristics and growth patterns.
Confirmation: Confirmed by a karyotype (chromosome analysis), which examines the number and structure of chromosomes.

Treatment and Management:

There is no cure for Turner Syndrome, but treatment focuses on managing symptoms and improving quality of life:

Growth Hormone Therapy: Used to increase height, particularly in childhood.
Estrogen Replacement Therapy: Important for initiating puberty, promoting bone health, and supporting cardiovascular health.
Heart Defect Correction: Surgery or other interventions may be needed to correct heart defects.
Regular Monitoring: Ongoing monitoring for potential complications, such as high blood pressure, thyroid problems, diabetes, and osteoporosis.
Educational and Psychological Support: To address learning difficulties, social skills challenges, and emotional well-being.

Important Considerations:

Variability: The severity of symptoms can vary greatly. Some individuals may have very mild features, while others experience more significant challenges.
Early Diagnosis and Intervention: Early diagnosis and appropriate medical care are crucial for maximizing health and well-being.
Support: Support groups and resources can be helpful for individuals with Turner Syndrome and their families.

In summary, Turner Syndrome is a genetic condition affecting females, characterized by the partial or complete absence of one X chromosome. This leads to a range of physical and medical challenges, but with appropriate medical management and support, individuals with Turner Syndrome can lead fulfilling and productive lives.