Klinefelter Syndrome

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Klinefelter Syndrome by Mind Map: Klinefelter Syndrome

1. Causative Factors

1.1. Can be cause either by the mother or the father.

1.2. Caused by at least 1 Y and 2 X chromosomes.

2. Risk Factors

2.1. Advanced maternal age, as well as the frequency of the XY sperm in fathers with advanced paternal age.

2.2. There is no evidence that Klinefelter Syndrome is hereditary.

2.3. Increased prevalance in the patient developing thyroid issues, Systemic Lupus Erythematosus and Diabetes Mellitus (hormonal conditions.)

3. Pathophysiologic Etiology

3.1. The male child has an added X chromosome and produces the 47, XXY karytotype.

3.2. Occurs in 500-1000 male births.

4. Diagnostic Tests

4.1. Steroid concentration lab results will show normal levels in an amniocentesis, the male babies cannot be tested in utero.

4.2. Chromosomal diagnostic tests (also known as a Karyotype,) can determine Klinefelter Syndrome in an infertility assessment in bloodwork.

5. Molecular & Chromosomal details

5.1. 47,XXY mosaicism- the most common variation. Fertility is usually not affected. Developmental issues are less common.

5.2. 47,X,i (Xq),Y- monosomy Xp and trisomy for Xq. Stature is not increased and intelligence is within normal limits.

5.3. 48, XXYY- common variants in these patients. The patients are taller with longer lower extremities. Tremors are common and these patients are infertile, with smaller genitalia.

5.4. 49, XXXXY- most severe type of variation. Patients exhibit facial abnormalities, severe intelligence deficiencies along with conditions in the endocrine and cardiac systems.

6. Physical and clinical findings

6.1. Gynacomastia or increased breast size in 50 percent of patients.

6.2. Small testes or hypogonadism, small genitalia and sparse body hair.

6.3. Reduced IQ levels, learning/reading disabilities but not limited to developmental and behavior issues in most patients.

6.4. Infertility in most patients.