Pseudo-Turner syndrome

Pseudo-Turner Syndrome is a medical condition that shares some clinical features with Turner syndrome, but it is caused by different genetic abnormalities. Unlike Turner syndrome, which is characterized by a complete or partial absence of one of the X chromosomes in females, Pseudo-Turner Syndrome does not necessarily involve chromosomal anomalies and can affect both males and females.

Symptoms and Signs

The symptoms of Pseudo-Turner Syndrome can vary widely among individuals but often include short stature, a webbed neck, and edema of the hands and feet. Other common features may resemble those of Turner syndrome, such as:

• Low-set ears
• High-arched palate
• Broad chest with widely spaced nipples
• Skeletal abnormalities such as Madelung deformity
• Cardiovascular anomalies
• Kidney problems

Causes

Pseudo-Turner Syndrome can be caused by a variety of genetic and environmental factors, unlike Turner syndrome, which is specifically due to the loss or structural abnormalities of an X chromosome. The exact cause of Pseudo-Turner Syndrome is often difficult to determine and may involve complex genetic interactions.

Diagnosis

Diagnosis of Pseudo-Turner Syndrome involves a thorough clinical evaluation and detailed patient history. Genetic testing may be conducted to rule out Turner syndrome and identify any underlying genetic abnormalities that could explain the phenotype. Imaging studies, such as ultrasound and MRI, may be used to assess organ anomalies, and hormone levels may be checked to evaluate endocrine function.

Treatment

Treatment for Pseudo-Turner Syndrome is symptomatic and supportive. Growth hormone therapy may be considered to address short stature, and surgical interventions may be necessary for correcting skeletal deformities and cardiovascular anomalies. Regular monitoring and management of kidney function and cardiovascular health are important aspects of care.

Prognosis

The prognosis for individuals with Pseudo-Turner Syndrome varies depending on the severity of symptoms and the presence of associated health issues. With appropriate medical care and monitoring, many individuals can lead healthy, productive lives.

See Also

• Turner syndrome
• Chromosome abnormalities
• Growth hormone therapy
• Congenital anomalies

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 Pseudo-Turner syndrome for any updates.

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