Pediatric Problems
Board Questions
A 15-year-old female is brought to your office for a routine wellness check. Her only concerns are that she has never menstruated and she is not growing as fast as her peers. She is very active and plays volleyball on a travel team. An examination reveals that her height is now at the 25th percentile, although it was at the 90th percentile when she was 8 years old. She has breast buds that do not extend beyond the areola and her pubic hair is fine and sparse. Laboratory findings include a negative pregnancy test and a normal CBC, metabolic panel, TSH level, and prolactin level. She has an estradiol level of 12 pg/mL (N 25–75), an LH level of 40 mIU/mL (N 5–20), and an FSH level of 50 mIU/mL (N 3–20).
The most likely diagnosis is
A) congenital adrenal hyperplasia
B) constitutional delay of puberty
C) pituitary adenoma
D) polycystic ovary syndrome
E) primary ovarian insufficiency
ANSWER: E
Primary amenorrhea is the lifelong absence of menses. If menarche has not occurred by age 15, or no menses have occurred 3 years after the development of breast buds, an evaluation is recommended. The patient’s history should include a review of eating and exercise habits, sexual activity, changes in body weight, perfectionistic tendencies, substance abuse, chronic illness, and timing of breast and pubic hair development. A family history of late growth spurts or late menses may indicate constitutional delay, which manifests as short stature that continues on the same percentile until puberty, when there is a delayed growth spurt to achieve normal height.
A physical examination should note trends in height, weight, and BMI. An evaluation should be performed to look for signs of virilization, which would indicate androgen excess found in congenital adrenal hyperplasia, polycystic ovary syndrome, Cushing syndrome, or adrenal tumors.
Laboratory testing is usually initiated with a pregnancy test and prolactin, LH, FSH, and TSH levels. Primary ovarian insufficiency is associated with low estradiol levels and high levels of LH and FSH. Generally, the LH/FSH ratio is <1. Patients with congenital adrenal hyperplasia will have low estrogen, LH, and FSH levels. Virilization is generally noted in congenital adrenal hyperplasia, and a 17-hydroxyprogesterone level should be obtained to assess for this condition. Functional hypothalamic amenorrhea will also cause low levels of LH, FSH, and TSH. While polycystic ovary syndrome is associated with low estrogen, LH, and FSH levels, prolactin may be elevated. A pituitary adenoma will cause the prolactin level to be elevated.
