A 14-year-old girl is brought to the clinic for a routine well-child visit. The girl has been healthy and her only concern is that she has not yet had a menstrual period. Most of her friends have undergone menarche, and she wants to know when she will start menstruating. She wears corrective glasses for myopia. Her father is 190.5 cm (6 ft 3 in) tall, and her mother is 183 cm (6 ft) tall. On examination, the patient's height and weight are at the 5th and 55th percentiles, respectively. Blood pressure is 140/90 mm Hg in the right upper arm and 90/40 mm Hg in the lower extremities. Multiple pigmented nevi are scattered on the face and chest. Which of the following complications is this patient most at risk of developing?

Question

A 14-year-old girl is brought to the clinic for a routine well-child visit.  The girl has been healthy and her only concern is that she has not yet had a menstrual period.  Most of her friends have undergone menarche, and she wants to know when she will start menstruating.  She wears corrective glasses for myopia.  Her father is 190.5 cm (6 ft 3 in) tall, and her mother is 183 cm (6 ft) tall.  On examination, the patient's height and weight are at the 5th and 55th percentiles, respectively.  Blood pressure is 140/90 mm Hg in the right upper arm and 90/40 mm Hg in the lower extremities.  Multiple pigmented nevi are scattered on the face and chest.  Which of the following complications is this patient most at risk of developing?

Quizplus · Accepted Answer

11ec25c8_d6e6_3244_bc81_0784e2a4a2d1_MD0003_00 This patient's short stature, signs of aortic coarctation (blood pressure differential), and absent menarche are most likely due to Turner syndrome (TS), a chromosomal abnormality caused by complete or partial loss of an X chromosome (45,X karyotype). 45,X karyotype Patients with TS typically have ovarian dysgenesis, leading to "streak ovaries" (small ovaries with little to no follicles) and primary ovarian insufficiency. Because ovaries normally produce estrogen, patients with TS are estrogen deficient, which leads to amenorrhea and minimal or no breast development (thelarche). Estrogen also inhibits osteoclast-mediated bone resorption; therefore, patients with TS have increased bone resorption, decreased bone mineral density, and increased risk of osteoporotic fracture. Estrogen replacement therapy is given to girls with TS to promote normal sexual maturation and reduce the risk of osteoporotic fractures. (Choice A) Chronic constipation is common in patients with hypothyroidism. Although hypothyroidism can cause delayed menstruation and hypertension, there is no associated blood pressure differential (ie, no associated aortic coarctation). (Choice B) Patients with polycystic ovarian syndrome (PCOS) have high, unopposed estrogen levels that increase the risk of endometrial hyperplasia. Patients with PCOS can have amenorrhea due to anovulation; however, they are typically post-menarche and have associated hirsutism and obesity. The low estrogen levels in TS are likely protective against endometrial hyperplasia. (Choice C) Most patients with TS have normal cognitive abilities. However, there is an increased risk of impaired nonverbal skills (eg, mathematics), attention-deficit hyperactivity disorder, and problems with executive functioning. (Choice D) Mitral valve prolapse is more common in patients with connective tissue disorders (eg, Marfan syndrome). Patients do not have menstrual abnormalities and typically have tall stature. (Choice F) Visual field defects (eg, bitemporal hemianopsia) can occur with a prolactinoma compressing the optic chiasm. Excess prolactin causes galactorrhea and suppresses GnRH, resulting in amenorrhea; however, prolactinomas are not associated with aortic coarctation. Educational objective: Short stature, amenorrhea, and aortic coarctation are features of Turner syndrome. Patients are at increased risk of osteoporotic fracture due to estrogen deficiency from ovarian dysgenesis. References: Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with Turner syndrome: a systematic review and meta-analysis. (http://www.ncbi.nlm.nih.gov/pubmed/27473099) Bone health in children and adolescent with Turner syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/23426807)

A 14-Year-Old Girl Is Brought to the Clinic for a Routine