Turner Syndrome synonyms

Turner Syndrome is a genetic disorder that affects females and is characterized by the absence or partial absence of one of the two X chromosomes. This condition occurs in approximately 1 in every 2,500 female births. Turner Syndrome is also known by several other names, including:

• Monosomy X: This term refers to the presence of only one X chromosome instead of the usual two in females. The absence of the second X chromosome is the underlying cause of Turner Syndrome.


• Bonnet-Dechaume-Blanc Syndrome: This name is derived from the French physicians who first described the syndrome in the 1930s.


• Ullrich-Turner Syndrome: This alternative name honors the German endocrinologist, Dr. Henry Turner, who first identified the condition in 1938.


• Gonadal Dysgenesis: This term highlights the abnormal development of the ovaries, which is a common feature of Turner Syndrome. The ovaries may be absent or underdeveloped, leading to infertility and other reproductive issues.


• 45,X: This name refers to the chromosomal makeup of individuals with Turner Syndrome, where the sex chromosomes consist of only one X chromosome and no Y chromosome.

It is important to note that Turner Syndrome can vary in its presentation and severity among affected individuals. Common features include short stature, webbed neck, low hairline at the back of the neck, and a broad chest with widely spaced nipples. Other potential symptoms include heart defects, kidney abnormalities, hearing loss, and learning difficulties.

Early diagnosis and appropriate medical management are crucial for individuals with Turner Syndrome. Treatment may involve growth hormone therapy to improve height, hormone replacement therapy to induce puberty and promote secondary sexual characteristics, and addressing specific health concerns such as heart or kidney problems.

Turner Syndrome is a complex condition that requires multidisciplinary care from healthcare professionals specializing in endocrinology, cardiology, genetics, and psychology. With appropriate support and interventions, individuals with Turner Syndrome can lead fulfilling lives and overcome many of the challenges associated with the disorder.