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Diseases » Turner Syndrome » Misdiagnosis

Misdiagnosis of Turner Syndrome

Contents

Turner Syndrome Diagnosis: Book Excerpts

Common Misdiagnoses and Turner Syndrome

Coarctation of aorta in Turner's syndrome: Turner syndrome is a sex chromosomal abnormality due to the presence of only one X chromosome occurring in newborn females. The genetic profile is 45 chromosomes of XO karyotype. It is characterized by retarded growth that leads to a small stature and frequent infertility. Turner syndrome is diagnosed on the basis of genetic analysis of chromosomes. This can be done prior to birth. Most individuals with Turner syndrome require female hormone therapy to promote development of secondary sexual characteristics and menstruation Most women with Turner syndrome can live relatively normal lives. The prognosis for a person with Turner syndrome is dependent on other conditions that may be present. Early surgical intervention is required to treat webbed neck. It is also important to differentiate Turners syndrome from Noonan's syndrome which has a few similar features. In Noonan's syndrome mental retardation is usually present and the cardiac lesion associated is pulmonary stenosis which is not the case in Turner's syndrome as mental retardation occurs very rarely and the main cardiac pathology involved is coarctation of aorta.

General Misdiagnosis Articles

Read these general articles with an overview of misdiagnosis issues.

About misdiagnosis:

When checking for a misdiagnosis of Turner Syndrome or confirming a diagnosis of Turner Syndrome, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. These alternate diagnoses of Turner Syndrome may already have been considered by your doctor or may need to be considered as possible alternative diagnoses or candidates for misdiagnosis of Turner Syndrome. For a general overview of misdiagnosis issues for all diseases, see Overview of Misdiagnosis.