Turner Syndrome

1. Genetic Testing

1.1. During pregnancy via Chorionic villi sampling or after 13 weeks gestation

1.2. Abnormal ultrasound findings (heart defects, ascites, kidney defects, etc.)

1.3. After birth of baby through karyotype

1.4. Pediatric endocrinologist specializes in care of patients with Turner Syndrome (TS).

2. Treatment

2.1. Estrogen replacement therapy (ERT) for teenage girls with TS to stimulate puberty & secondary sexual characteristics

2.2. Humane growth hormone to increase stature

2.3. Multidisciplinary approach to care for patients with TS

3. Genetic Information

3.1. Karyotype

3.2. Sex chromosomal aneuploidy usually a result of nondisjunction

3.3. Has no Y chromosomes and has set of 45 X chromosomes

4. Genotype

4.1. Always females

4.2. Short stature

4.3. Widely spaced nipples

4.4. Webbing of the neck

4.5. Abnormal female genitals

4.6. Normal range IQ

4.7. Sparce body hair

5. Medical Findings

5.1. Frequency & Risk Factors

5.1.1. 1% of 45X are carried to term

5.1.2. Most common single-chromosome aberration

5.1.3. Most cases are not inherited

5.1.4. 1:2500 female newborn affected

5.1.5. Increased risks for developing cancer

5.2. Physical and Anatomical Presentation

5.2.1. Coarctation of the aorta

5.2.2. Osteoporosis

5.2.3. Renal malformation

5.2.4. Sterility

5.2.5. Lack of spontaneous puberty

5.2.6. Skeletal abnormalities

5.2.7. Lymphedema of hands and feet

5.2.8. Ovarian hypofunction