20 Facts About Bonnevie–Ullrich–Turner

What is Bonnevie–Ullrich–Turner Syndrome?

Bonnevie–Ullrich–Turner syndrome, often called Turner syndrome, is a genetic disorder that affects females. It results from the absence or abnormality of one of the X chromosomes, leading to a variety of physical and developmental issues.

1. Definition and Causes: Turner syndrome is caused by the partial or complete loss of an X chromosome. This results in individuals having only one X chromosome (45,X) instead of the usual two X chromosomes (46,XX) found in females.

2. Prevalence: The condition affects approximately 1 in 2,000 to 1 in 5,000 female births. However, the actual incidence might be higher due to many cases not being diagnosed until later in life.

Symptoms and Physical Features

Turner syndrome presents a range of symptoms and physical characteristics. These can vary widely among individuals.

3. Symptoms: Common symptoms include short stature, infertility, and congenital heart defects. Other symptoms include a webbed neck, low-set ears, low hairline at the back of the neck, and swollen hands and feet.

4. Physical Features: Individuals with Turner syndrome often exhibit characteristic physical features such as a webbed neck, low-set ears, low hairline, small chin and jaw, high-arched palate, and puffy hands and feet.

Infertility and Heart Defects

One of the most significant impacts of Turner syndrome is on fertility and heart health.

5. Infertility: One of the most significant features of Turner syndrome is infertility. This is due to the underdevelopment of the ovaries, leading to premature ovarian failure and the inability to attain puberty without hormone treatment.

6. Heart Defects: Congenital heart defects are common in individuals with Turner syndrome, affecting about 50% of those affected. These defects can range from mild to severe and may require surgical intervention.

Cognitive and Sensory Challenges

Turner syndrome can also affect cognitive abilities and sensory functions, such as hearing and vision.

7. Spatial Awareness Issues: Many individuals with Turner syndrome experience spatial awareness issues, affecting their ability to perform tasks such as mathematics. This is due to problems with spatial visualization.

8. Hearing Problems: Hearing problems are more common in individuals with Turner syndrome. These can range from mild hearing loss to more severe issues that may require medical intervention.

9. Vision Problems: Vision problems are also prevalent among those with Turner syndrome. These can include issues such as strabismus (crossed eyes) and other visual impairments.

10. Intelligence: Most people with Turner syndrome have normal intelligence. However, some may experience certain learning disabilities, particularly in areas that require spatial visualization.

Diagnosis and Diagnostic Methods

Turner syndrome can be diagnosed at various stages of life, using different methods.

11. Diagnosis: Turner syndrome can be diagnosed at various stages of life, including before birth through amniocentesis or chorionic villus sampling, at birth due to physical features, in childhood when growth rates are monitored, during the teenage years when puberty fails to arrive, and in adulthood during investigations for infertility.

12. Diagnostic Methods: Diagnosis involves a combination of clinical history, physical examination, psychological and educational assessment, blood tests, and chromosome analysis. Genetic tests are also used to confirm the diagnosis.

Historical Background

Understanding the history of Turner syndrome helps appreciate the evolution of its diagnosis and treatment.

13. History of the Syndrome: The syndrome is named after Henry Turner, an American endocrinologist who first described it in 1938. In Europe, it is often referred to as Ullrich–Turner syndrome, acknowledging earlier descriptions by European doctors Kristine Bonnevie and Otto Ullrich.

14. Early Descriptions: The condition was first described in the medical literature by Oskar Kobyliński in 1883, although his case was later found to be more likely Noonan syndrome. Ernst Funke described a similar case in 1902, which is often cited as one of the first illustrated reports of Ullrich–Turner syndrome.

15. Otto Ullrich’s Contribution: Otto Ullrich independently described the syndrome in 1930, highlighting its characteristic features such as infantilism, congenital webbed neck, and cubitus valgus. His work helped solidify the understanding of the condition.

16. Kristine Bonnevie’s Role: Kristine Bonnevie contributed significantly to the understanding of the syndrome by describing its developmental anomalies. Her work laid the groundwork for later researchers like Turner and Ullrich.

17. Nikolai Shereshevsky’s Early Observations: In Russian and Soviet literature, the condition is sometimes referred to as Shereshevsky–Turner syndrome. Nikolai Shereshevsky first described it as hereditary in 1925, attributing it to underdevelopment of the gonads and anterior pituitary gland combined with congenital malformations.

18. Charles Ford’s Contribution: The first published report of a female with a 45,X karyotype was made by Charles Ford and colleagues in 1959. This report provided crucial genetic evidence for the diagnosis of Turner syndrome.

Treatment Options and Support

While Turner syndrome is a lifelong condition, various treatment options and support resources are available.

19. Treatment Options: Various treatment options are available to help affected individuals reach their potential. These include hormone therapy to induce puberty, surgical correction of physical defects, and reproductive technology for those seeking to have children.

20. Support and Resources: Several organizations and resources support individuals with Turner syndrome. These include the Turner Syndrome Association of Australia, the National Institute of Child Health and Human Development, and various patient organizations that provide educational support and advocacy.

Understanding Bonnevie–Ullrich–Turner Syndrome

Bonnevie–Ullrich–Turner syndrome, or Turner syndrome, is a genetic disorder affecting females due to the absence or abnormality of one X chromosome. It impacts about 1 in 2,000 to 1 in 5,000 female births. Key symptoms include short stature, infertility, and heart defects. Diagnosis can occur at various life stages through clinical history, physical exams, and genetic tests. Named after Henry Turner, Otto Ullrich, and Kristine Bonnevie, the syndrome has a rich history of medical research. Treatment options like hormone therapy and surgical corrections help manage symptoms, while support organizations offer resources and advocacy. Understanding this condition's complexities and history is crucial for providing comprehensive care and support to those affected.