Turner Syndrome
Overview
Turner Syndrome, also known as Ullrich-Turner Syndrome or Gonadal Dysgenesis, is a chromosomal condition that affects development in females. The syndrome is characterized by the partial or complete absence of one of the two X chromosomes normally present in females. This condition affects approximately 1 in 2,500 female live births worldwide, making it one of the most common chromosomal disorders in females.
Genetics
Turner Syndrome is a genetic disorder that occurs due to a nondisjunction event during meiosis, the process of cell division that produces eggs and sperm. This results in the formation of a gamete that lacks one of the two X chromosomes typically present in female cells. When this gamete is fertilized by a sperm, the resulting zygote has only one X chromosome, leading to the development of Turner Syndrome.
The X chromosome that is missing or partially missing in Turner Syndrome is responsible for key developmental processes, including sexual development. The absence of this chromosome results in a range of physical and developmental symptoms, including short stature, infertility, heart defects, and certain learning disabilities.
Symptoms and Diagnosis
The symptoms of Turner Syndrome can vary greatly among individuals. Some common symptoms include short stature, delayed puberty, infertility, heart defects, and certain learning disabilities. Other possible symptoms include a low hairline at the back of the neck, drooping eyelids, and a broad chest with widely spaced nipples.
Diagnosis of Turner Syndrome can be made at different stages of life, including prenatally, during infancy or early childhood, or in late adolescence or adulthood. Prenatal diagnosis can be made through procedures such as amniocentesis or chorionic villus sampling, which allow for the analysis of the baby's chromosomes. Postnatal diagnosis is typically based on physical symptoms and can be confirmed through karyotype analysis, a test that examines the size, shape, and number of chromosomes in a sample of cells.
Treatment and Management
There is no cure for Turner Syndrome, but there are treatments available that can help manage the symptoms and improve the quality of life for those affected. Growth hormone therapy can help increase height in individuals with Turner Syndrome, and estrogen replacement therapy can promote the development of secondary sexual characteristics and help prevent osteoporosis, a condition that weakens bones and makes them more likely to break.
Individuals with Turner Syndrome may also require regular monitoring and treatment for potential health complications, such as heart and kidney problems. A multidisciplinary team of healthcare providers, including endocrinologists, cardiologists, and developmental pediatricians, may be involved in the care of a person with Turner Syndrome.
Prognosis
With appropriate medical care and ongoing monitoring, individuals with Turner Syndrome can lead healthy, productive lives. However, they may face certain health challenges and may require ongoing medical care. For example, most women with Turner Syndrome are infertile and may require assisted reproductive technologies if they wish to have children. Additionally, individuals with Turner Syndrome have an increased risk of certain health problems, such as heart disease, diabetes, and thyroid disorders.
