Turner syndrome is a genetic disorder affecting only females, caused by the absence of all or part of the X chromosome. The spelling of this word is /ˈtɜːrnər sɪndroʊm/, as per IPA phonetic transcription. The "u" in "Turner" is pronounced as "er" with a slight emphasis on the "r". The "s" in "syndrome" is pronounced as "z". The phonetic transcription helps to accurately pronounce the word, especially for non-native English speakers. Early diagnosis and management can help individuals with Turner syndrome lead productive lives.
Turner syndrome is a chromosomal disorder that affects females and results in various developmental and physiological abnormalities. It is caused by a complete or partial absence of the X chromosome in some or all cells of the body.
The primary characteristic of Turner syndrome is short stature, with individuals typically being shorter than average due to delayed growth and maturation. Other physical features may include a webbed neck, low hairline at the back of the head, widely spaced nipples, and low-set ears. Additionally, individuals with Turner syndrome often experience reproductive difficulties, such as the absence of puberty or incomplete sexual development, resulting in infertility.
The condition can also lead to a variety of health issues. Girls and women with Turner syndrome may have congenital heart defects, high blood pressure, kidney problems, and hearing or vision impairments. They may also be at an increased risk for certain autoimmune disorders, such as hypothyroidism, celiac disease, and diabetes.
Psychologically, girls and women with Turner syndrome may face certain challenges, including difficulties with social interactions and self-esteem due to physical differences and fertility issues. However, with appropriate medical care, psychological support, and educational interventions, individuals with Turner syndrome can lead healthy and fulfilling lives.
Early diagnosis and comprehensive management by a multidisciplinary team of medical professionals are crucial in ensuring optimal physical and psychological outcomes for individuals with Turner syndrome.
The word "Turner Syndrome" is named after the American endocrinologist, Henry Turner, who first described the condition in 1938. Although Turner Syndrome was previously diagnosed by other physicians, Turner's comprehensive characterization and understanding of its clinical features led to the eponymous naming of the disorder.