Turner syndrome is a rare genetic disorder that exclusively affects girls. This condition can lead to various health issues, ranging from short stature to heart defects. In some cases, the symptoms may be so mild that the diagnosis is delayed until the teenage years or young adulthood. While Turner syndrome can cause lifelong symptoms, advancements in treatments and ongoing research help individuals manage their condition effectively.
Turner syndrome occurs when a female is missing certain genes typically found on the X chromosome. Females have two X chromosomes, while males have an X and a Y chromosome. The condition can manifest in different ways, including:
Monosomy: A problem with the mother's egg or father's sperm causes the absence of an X chromosome in every cell of the body.
Mosaicism: Incorrect cell division during early fetal development leads to some cells having two complete X chromosomes, while others have only one.
X chromosome abnormalities: Cells have one complete copy and one abnormal or missing copy of the X chromosome.
Y chromosome material: In rare cases, some cells have one X chromosome, while others have an X chromosome and some Y chromosome material, increasing the risk of gonadoblastoma, a type of cancer.
Signs of Turner syndrome can be present before birth, giving parents an indication that their baby might be born with the condition. An ultrasound may reveal heart and kidney problems or fluid buildup. A DNA test using a maternal blood sample can also screen for Turner syndrome prenatally.
At birth or during infancy, girls with Turner syndrome may exhibit the following physical features:
Swollen hands and feet
Smaller than average height at birth
Wide or weblike neck with extra skin folds
Receding or small lower jaw
High, narrow roof of the mouth (palate)
Low-set ears and low hairline
Broad chest with widely spaced nipples
Arms that turn outward at the elbows
Short fingers, toes, and narrow nails
Delayed growth
Heart defects
Down-turning eyelids
Short roots of teeth
Kidney abnormalities
Greater than usual number of moles on the skin
As individuals with Turner syndrome age, they may experience additional symptoms, such as:
Lack of growth spurts at expected times during childhood
Shorter height than expected based on parents' height
Learning disabilities
Inability to go through puberty normally due to ovarian failure
Loss of menstrual cycles
Infertility
Throughout life, individuals with Turner syndrome may face various health complications, including:
Heart problems due to physical structure
Increased risk of diabetes and high blood pressure
Hearing loss
Kidney problems, leading to high blood pressure and urinary tract infections
Immune disorders (e.g., diabetes, inflammatory bowel disease, hypothyroidism)
Bleeding in the digestive tract
Dental and vision problems
Scoliosis (curving of the spine) and osteoporosis (brittle bones)
Learning disabilities
High blood pressure
Mental health issues
Obesity
Women with Turner syndrome often experience difficulty conceiving. If pregnancy is achieved, they may face risks such as high blood pressure and gestational diabetes.
If an ultrasound reveals abnormalities during pregnancy, a doctor may recommend examining the baby's chromosomes with a karyotype test. This test compares chromosomes by lining them up. To obtain samples, the doctor may suggest:
Amniocentesis: Protective fluid surrounding the baby is taken from the uterus.
Blood sample: This can help determine if the baby is missing all or part of an X chromosome.
Chorionic villus sampling (CVS): The doctor removes tissue samples from a portion of the placenta for testing, typically around 10-12 weeks of pregnancy.
Cheek scraping or skin sample: The doctor may test cells scraped from the inside of the cheek (buccal smear) or a sample of skin cells.
If a diagnosis is not made before or at birth, lab tests that check hormones, thyroid function, and blood sugar can help diagnose Turner syndrome. Due to the associated complications, doctors may also recommend tests for the kidneys, heart, and hearing.
Medical care for Turner syndrome often involves a team of specialists tailored to each individual's specific needs, as cases can vary widely. While there is no cure, most girls will receive the same main therapies during childhood and adolescence:
Growth hormone: Given as an injection a few times a week to maximize height potential.
Estrogen therapy: Beginning around puberty and continuing until the average age of menopause, this hormone treatment helps with growth and adult sexual development.
Nearly all women with Turner syndrome require fertility treatments to become pregnant, and carrying a child can pose health risks. If you have Turner syndrome, discuss these issues with your doctor to make informed decisions about your health and well-being.
For more information on Turner syndrome, visit reputable sources such as the National Institute of Child Health and Human Development, the National Organization for Rare Disorders, and the Turner Syndrome Society of the United States.
Fatty liver disease is a common condition where extra fat builds up in your liver. It often causes no symptoms and can be reversed with diet and exercise. However, if left [...]
An annual physical exam is an important part of maintaining good health. During this visit, your doctor will check your overall health, discuss any concerns you may have, and [...]
Ringworm is a common fungal skin infection that can affect people of all ages. Despite its name, ringworm is not caused by a worm but by a type of fungus that thrives on the [...]