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(Q97.3) Female with 46,xy karyotype
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4 436 in individuals diagnosis female with 46,xy karyotype confirmed
620 deaths with diagnosis female with 46,xy karyotype
14% mortality rate associated with the disease female with 46,xy karyotype
Diagnosis female with 46,xy karyotype is diagnosed Prevalent in Women Only
0
Men receive the diagnosis female with 46,xy karyotype
0 (No mortality)Died from this diagnosis.
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4 436
Women receive the diagnosis female with 46,xy karyotype
620 (14.0 %)Died from this diagnosis.
Risk Group for the Disease female with 46,xy karyotype - Men aged 0 and Women aged 15-19
No Cases of the Disease Female with 46,XY karyotype identified in Men
Less common in men the disease occurs at Age 0-95+Less common in women the disease occurs at Age 5-9, 30-39, 55-95+
In Women diagnosis is most often set at age 0-5, 10-29, 40-54
Disease Features female with 46,xy karyotype
Absence or low individual and public risk
Female with 46,xy karyotype - what does this mean
Female with 46,xy karyotype is a condition in which a female has an unusual chromosomal pattern, with two x chromosomes and a y chromosome. this is caused by a genetic mutation that occurs during the development of the fetus in the womb, and can lead to a range of associated health issues such as infertility, ambiguous genitalia, and increased risk of certain cancers.
What happens during the disease - female with 46,xy karyotype
The pathogenesis of female with 46,xy karyotype is likely due to a genetic mutation that has caused a disruption in the normal expression of sex chromosomes. this disruption can cause a variety of issues, including the development of female characteristics despite having male chromosomes. in some cases, this is due to a lack of the y chromosome or the presence of an extra x chromosome. in other cases, the mutation may cause the y chromosome to be expressed as a female-like x chromosome. in any case, the disruption of normal sex chromosome expression is likely the cause of the female with 46,xy karyotype.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Order a physical exam to assess the patient's gender identity.
- Order a karyotype to confirm the 46,XY karyotype.
- Order a blood test to check hormone levels.
- Order a pelvic ultrasound to check for ovarian structures.
- Order a genetic consultation to discuss the patient's diagnosis and treatment options.
- Order a chromosomal microarray to identify any genetic abnormalities.
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of the 46,XY karyotype and improve the patient's quality of life.
- Administering hormone replacement therapy.
- Genetic counseling.
- Monitoring of hormone levels.
- Surgery to remove gonads.
- Psychological counseling.
- Monitoring of physical development.
- Educating patient and family on the condition.
- Regular follow-up visits with the doctor.
7 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Female with 46,xy karyotype - Prevention
The best way to prevent female with 46,xy karyotype is to ensure that all pregnant women receive adequate prenatal care, including regular ultrasounds to screen for any abnormalities. additionally, genetic counseling and testing should be offered to those with a family history of the condition, so that appropriate interventions can be taken if necessary.