Turner-like syndrome

Turner-like syndrome is a condition that shares several phenotypic characteristics with Turner syndrome, a genetic disorder affecting females, characterized by the partial or complete absence of one X chromosome. Unlike Turner syndrome, which has a clear genetic basis, Turner-like syndrome does not stem from a specific, identifiable chromosomal anomaly. This condition is notable for its clinical heterogeneity, meaning its symptoms and physical findings can vary significantly among affected individuals.

Symptoms and Diagnosis

The symptoms of Turner-like syndrome can mirror those found in Turner syndrome to a varying degree. Common features include short stature, delayed puberty, and certain physical features such as a webbed neck, low-set ears, and a broad chest. However, the absence of a clear genetic marker makes the diagnosis of Turner-like syndrome more challenging. Diagnosis typically involves a combination of physical examination, assessment of symptoms, and possibly genetic testing to rule out other conditions, including Turner syndrome itself.

Etiology

The exact cause of Turner-like syndrome remains unknown. It is speculated that a range of genetic and possibly environmental factors may contribute to its manifestation. Unlike Turner syndrome, which is directly linked to the monosomy of the X chromosome or other structural abnormalities of the X chromosome, Turner-like syndrome does not have a defined chromosomal pattern associated with it.

Management and Treatment

Management of Turner-like syndrome focuses on addressing the specific symptoms present in the individual. Growth hormone therapy may be considered to address short stature, while hormone replacement therapy can help initiate and maintain secondary sexual characteristics that may be lacking due to delayed or absent puberty. Regular monitoring and supportive therapies can help manage other potential complications, such as cardiovascular issues or hearing problems, which can be associated with the syndrome.

Prognosis

The prognosis for individuals with Turner-like syndrome varies, depending on the range and severity of symptoms. With appropriate management and treatment, many of the complications associated with the syndrome can be addressed, allowing individuals to lead healthy lives.

See Also

• Turner syndrome
• Chromosome
• Genetic disorder
• Growth hormone therapy
• Hormone replacement therapy

Resources

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Turner-like syndrome for any updates.

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