Question 14

Question:

A 6-year-old female is being evaluated for short stature. She is at the 12th percentile for height and the 34th percentile for weight. Vital signs are within normal limits. Physical exam reveals widely spaced nipples and a high arched palate. Karyotyping reveals 45XO. Which is she most at risk of developing?

Correct Answer: E.  Osteoporosis

The patient’s short height, high arched palate, wide spaced nipples, and 45 XO karyotype are all consistent with a diagnosis of Turner syndrome. Patients with Turner syndrome are prone to the development of osteoporosis, which increases the risk of bone fracture. This is due to low estrogen levels from gonadal dysgenesis. This may also be due to having only one copy of X chromosome genes that may be involved in bone metabolism. Estrogen replacement therapy is given to many patients to promote normal maturation, but also has the effect of reducing the risk of osteoporosis.