(Q98.2) Klinefelter syndrome, male with 46,xx karyotype

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5 250 in individuals diagnosis klinefelter syndrome, male with 46,xx karyotype confirmed

2 154 deaths with diagnosis klinefelter syndrome, male with 46,xx karyotype

41% mortality rate associated with the disease klinefelter syndrome, male with 46,xx karyotype

Etiology Pathogenesis Clinical Pattern Diagnostics Treatment Prevention

Diagnosis klinefelter syndrome, male with 46,xx karyotype is diagnosed Men are 88.04% more likely than Women

4 936

Men receive the diagnosis klinefelter syndrome, male with 46,xx karyotype

2 154 (43.6 %)

Died from this diagnosis.

100

314

Women receive the diagnosis klinefelter syndrome, male with 46,xx karyotype

0 (less than 0.1%)

Died from this diagnosis.

Risk Group for the Disease klinefelter syndrome, male with 46,xx karyotype - Men and Women aged 0

In Men diagnosis is most often set at age 0-34, 45-54

Less common in men the disease occurs at Age 35-44, 55-95+Less common in women the disease occurs at Age 0-95+

In Women diagnosis is most often set at age 0-1

Disease Features klinefelter syndrome, male with 46,xx karyotype

Absence or low individual and public risk

Klinefelter syndrome, male with 46,xx karyotype - what does this mean

Klinefelter syndrome is a genetic disorder caused by an extra x chromosome in males, resulting in a karyotype of 46,xx. this extra chromosome can cause a variety of developmental and physical effects, including tall stature, infertility, learning disabilities, and an increased risk of certain medical conditions.

What happens during the disease - klinefelter syndrome, male with 46,xx karyotype

Klinefelter syndrome is a genetic disorder caused by an extra x chromosome in males. this extra chromosome is usually inherited from the mother, and is present in the body's cells in the form of an extra x chromosome (46,xx karyotype). this extra chromosome can cause a range of physical and cognitive symptoms, including infertility, language delays, and physical characteristics such as tall stature and breast enlargement. the exact cause of the syndrome is unknown, but it is believed to be related to a random error in cell division during the formation of the egg or sperm.

Clinical Pattern

More details coming soon

How does a doctor diagnose

Physical examination
Karyotype analysis
Hormonal analysis
Genetic testing
Ultrasound imaging
Blood tests
Psychological evaluation

Additional measures:

MRI scan
CT scan

Treatment and Medical Assistance

Main goal of the treatment: To improve the quality of life of patients with Klinefelter syndrome.

Hormonal therapy to restore testosterone levels
Speech therapy to improve communication skills
Occupational therapy to improve physical and cognitive functioning
Psychotherapy to address emotional and social issues
Counseling to provide support for family members
Vocational training to develop job skills
Surgery to correct any physical deformities
Regular exercise to improve physical health

14 Days of Hospitalization Required

28 Hours Required for Outpatient Treatment

Klinefelter syndrome, male with 46,xx karyotype - Prevention

Klinefelter syndrome is a genetic disorder that affects males with a 46,xx karyotype. prevention of this condition is not possible, since it is caused by a random genetic mutation. however, couples can take steps to reduce their risk by seeking genetic counseling prior to conceiving a child.

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