Klinefelter Syndrome

1. Diagnostic Tests

1.1. Chromosome Analysis

1.2. Hormone Analysis

2. Findings

2.1. Male appearance but sterile

2.2. half develop gynecomastia

2.3. Testes are small

2.4. body hair is scant

2.5. high pitched voice

2.6. elevated stature

2.7. mental impairment may be present

2.8. regardless of how many X and Y chromosomes, these individuals have a male appearance

3. Risk factors

3.1. not known, other than maternal age

4. Causative Factors

4.1. rise in maternal age

4.2. random error in increased X chromosome

5. Genetic details

5.1. normal :Men XY, Female XX.

5.1.1. XXY karyotype

6. Two X chromosomes and a Y chromosome occur in each cell

7. Treatment

7.1. Testosterone Replacement Therapy

7.2. Breast Tissue Removal

7.3. Speech and Physical Therapy

7.4. Educational Evaluation and Support

7.5. Fertility Treatment

7.6. Psychological Counseling

8. Etiolgy

8.1. Random Genetic Event

9. Complications

9.1. Anxiety/depression

9.2. Infertility/Sexual Dysfunction

9.3. Osteoporosis

9.4. Heart and Blood Vessel Disease

9.5. Breast Cancer or other cancers

9.6. Lung disease

9.7. Autoimmune Disorders

9.7.1. Lupus

9.7.2. Rheumatoid Arthritis

9.8. Weak tooth enamel

9.8.1. high risk for tooth decay

9.8.2. high risk for dental cavities

9.9. hypogonadism

9.10. Endocrine Disorders

9.10.1. Hypothyroidism

9.10.2. Diabetes