Overview
Turner syndrome is a genetic condition that affects only females. It results from the partial or complete absence of one of the X chromosomes (sex chromosomes), which are responsible for determining female characteristics. This chromosomal abnormality can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop, and heart defects. Turner syndrome may be diagnosed before birth (prenatally), during infancy, or in early childhood. Girls and women with Turner syndrome require ongoing medical care from various specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives. Common signs and symptoms of Turner syndrome include short stature, ovarian insufficiency due to ovarian failure, heart defects, and specific physical features such as a wide or weblike neck, low-set ears, broad chest, high palate, arms turning outward at the elbows, narrow fingernails and toenails, and swelling of the hands and feet. Some girls with Turner syndrome may have subtle or mild symptoms that are not readily apparent.
Understanding the disease
Symptoms
The symptoms of Turner syndrome can vary depending on the individual and the severity of the condition. Some common signs and symptoms of Turner syndrome include:
- Short stature: Girls with Turner syndrome typically have short height and may not experience a significant growth spurt during childhood.
- Ovarian insufficiency: Failure of the ovaries to develop may occur at birth or gradually during childhood, leading to a lack of menstrual cycles and fertility issues.
- Heart defects: Many girls with Turner syndrome have heart abnormalities, which can be detected through various diagnostic tests.
- Abnormal kidneys: Some girls with Turner syndrome may have abnormal kidneys or swelling caused by fluid collection.
- Neck abnormalities: At birth or during infancy, signs of Turner syndrome may include a wide or weblike neck, low-set ears, and a high, narrow roof of the mouth.
- Other physical features: These can include broad chest with widely spaced nipples, arms that turn outward at the elbows, narrow and turned-upward fingernails and toenails, swelling of the hands and feet, slightly smaller than average height at birth, slowed growth, and a receding or small lower jaw. It's important to note that the severity of these symptoms can vary among individuals with Turner syndrome. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.
Development
Turner syndrome develops due to a chromosomal abnormality, specifically the absence or partial absence of one of the X chromosomes (sex chromosomes) in females. This condition can be present at birth or can develop during childhood, the teenage years, or young adulthood. The signs and symptoms of Turner syndrome can vary among affected individuals, but common features include short stature, ovarian insufficiency, and heart defects. Turner syndrome can be diagnosed before birth, during infancy, or in early childhood, based on various factors such as prenatal testing, ultrasound, and physical examination. Girls and women with Turner syndrome require ongoing medical care and support from a range of specialists to manage the associated health issues and lead healthy, independent lives.
Assessment and Diagnosis
Triage
If Turner syndrome is suspected either prenatally, at birth, during infancy, childhood, or in teenagers and adults, it is recommended to consult a doctor for proper evaluation and management. Early diagnosis and ongoing medical care from a variety of specialists can help ensure the best possible outcomes for girls and women with Turner syndrome.
Diagnosis
Diagnosis of Turner syndrome typically involves a chromosome analysis. The doctor will collect a blood sample, cheek scraping, or skin sample from the individual and analyze the chromosomes to determine if there's a missing X chromosome or a change in one of the X chromosomes. Prenatal screening tests like prenatal cell-free fetal DNA screening or noninvasive prenatal screening may also indicate an increased risk of Turner syndrome, but confirmation requires a karyotype during pregnancy or after delivery. A diagnosis can be suspected from prenatal ultrasound screening, and diagnostic tests can confirm the diagnosis before or after birth. A family doctor or pediatrician may suspect the disorder later if growth isn't occurring at an expected rate or puberty doesn't begin at an expected time.
Management and Treatment
Complications
Potential complications of Turner syndrome include:
- Learning disabilities: Difficulty with spatial concepts, math, memory, and attention.
- Mental health issues: Challenges in social situations, anxiety, depression, and an increased risk of ADHD.
- Infertility: Most females with Turner syndrome are infertile, but a small number may become pregnant spontaneously or with fertility treatment.
- Pregnancy complications: Women with Turner syndrome have an increased risk of complications during pregnancy, such as high blood pressure and aortic dissection.
- Vision problems: Weak muscle control of eye movements (strabismus), nearsightedness, and other vision problems.
- Kidney problems: Malformations of the kidneys may increase the risk of urinary tract infections.
- Autoimmune disorders: Increased risk of hypothyroidism due to Hashimoto's thyroiditis, diabetes, gluten intolerance (celiac disease), or inflammatory bowel disease.
- Skeletal problems: Abnormal curvature of the spine (scoliosis), forward rounding of the upper back (kyphosis), and increased risk of osteoporosis.
- Heart problems: Many infants with Turner syndrome are born with heart defects or slight abnormalities in heart structure, increasing the risk of serious complications.
- High blood pressure: Increased risk of high blood pressure, which can lead to heart and blood vessel diseases.
- Hearing loss: Common hearing loss may be due to nerve function loss or frequent middle ear infections.
- Large fluid collection on the back of the neck or other abnormal fluid collections (edema).
- Heart abnormalities.
- Abnormal kidneys.
- Signs of Turner syndrome at birth or during infancy may include a wide or weblike neck, low-set ears, broad chest with widely spaced nipples, high and narrow palate, arms turning outward at the elbows, narrow and upward-turned fingernails and toenails, swelling of the hands and feet, slight smaller-
Home Remedies
It is important to consult a healthcare professional for proper diagnosis and treatment of Turner syndrome. They can provide the best guidance on managing the associated symptoms and addressing any specific concerns related to the condition.