Pediatric Examination and Board Review (120 page)

3.
What is the definition of primary amenorrhea?

(A) no menstrual flow by age 16 years regardless of normal secondary sex characteristics

(B) no menstrual flow by age 14 years in a girl with absent secondary sex characteristics

(C) no menstrual flow a year after attaining SMR 5

(D) no menstrual flow 4 years after the onset of puberty

(E) all of the above

4.
Among the following, which one is the most likely cause of primary amenorrhea in this patient?

(A) hypopituitarism

(B) hypothalamic amenorrhea

(C) physiologic delay of puberty

(D) hypothyroidism

(E) hyperprolactinemia

5.
In a patient with absent breast development, which of the following would be included in the differential diagnosis of primary amenorrhea?

(A) polycystic ovarian syndrome

(B) agenesis of the müllerian structures

(C) imperforate hymen

(D) pure gonadal dysgenesis, 46,XX with streak gonads

(E) androgen insensitivity

6.
Among the causes of primary amenorrhea, which of the following does not present with hypogonadotropic hypogonadism?

(A) Kallmann syndrome

(B) eating disorders

(C) competitive athletics

(D) Turner syndrome

(E) chronic disease

7.
Which of the following clinical characteristics would make complete androgen insensitivity syndrome an unlikely diagnosis in this case?

(A) absent menses

(B) normal breast development

(C) pubic hair at Tanner stage 3

(D) normal linear growth

(E) none of the above

8.
Which of the following would be relevant issues to document in the clinical history?

(A) onset and tempo of pubertal changes

(B) polyuria and polydipsia

(C) changes in athletic training patterns

(D) headaches

(E) all of the above

9.
Which component of the physical examination will be least relevant in this case?

(A) BP

(B) acne

(C) appearance of the external genitalia

(D) evaluation of the growth chart

(E) genu valgum

10.
What is the single most important finding that will guide the laboratory workup of primary amenorrhea?

(A) degree of breast development

(B) height and weight

(C) signs of virilization

(D) presence or absence of a uterus, either clinically or on ultrasound

(E) upper/lower segment ratio

11.
What tests are useful in the diagnosis of primary amenorrhea in this case?

(A) pregnancy test

(B) FSH

(C) TSH

(D) bone densitometry

(E) all of the above

12.
Under what circumstance would a cranial magnetic resonance imaging (MRI) be the least helpful?

(A) galactorrhea

(B) visual field defects

(C) progressively worsening headaches

(D) abnormal sella visualized on a skull X-ray

(E) hypergonadotropic hypogonadism

13.
Which of the following statements best apply to the female athlete?

(A) pubertal development and menarche are often delayed in thin female athletes

(B) each year of premenarchal athletic training delays age of menarche by 5 months

(C) intensity of exercise correlates with incidence of amenorrhea

(D) the female athlete triad includes amenorrhea, disordered eating, and osteoporosis

(E) all of the above

14.
Which of the following factors is
not
associated with decreased bone density in adolescent athletes?

(A) low weight

(B) low BMI

(C) low calcium intake

(D) delayed puberty

(E) use of combined oral contraceptives

15.
Which of the following symptoms would not be suggestive of an eating disorder in this young athlete?

(A) postural dizziness

(B) diarrhea

(C) amenorrhea

(D) weight loss

(E) cold intolerance

16.
Which of the following statements is not true regarding the relation between amenorrhea and anorexia nervosa?

(A) amenorrhea occurs in almost all patients with anorexia nervosa

(B) in half of the patients with anorexia nervosa, amenorrhea develops at the same time as weight loss

(C) in 25% of patients, amenorrhea follows substantial weight loss

(D) weight loss follows amenorrhea in 25% of cases

(E) anorexia nervosa is never a cause of primary amenorrhea

17.
All of the following are common signs of anorexia nervosa except

(A) nail pitting

(B) edema

(C) warm, sweaty palms

(D) increased lanugo hair

(E) bradycardia

18.
Which of the following psychosocial characteristics is not typically found in teens with an eating disorder?

(A) depression, anxiety, and obsessional thoughts

(B) perfectionism

(C) increased sexual interest

(D) school overachievement

(E) disturbed body image

19.
Assuming that this girl’s primary amenorrhea is exclusively a result of hypothalamic hypogonadotropic hypogonadism associated with strenuous athletic training, which of the following would be recommended for the management of her condition?

(A) counseling regarding appropriate activity level

(B) maintenance of adequate weight

(C) increasing calcium intake to 1500 mg/day

(D) watchful waiting

(E) all of the above

ANSWERS

1.
(D)
The average age of menarche of American adolescents is 12.7 years with a standard deviation of 1 year. According to some studies, a minimum BMI of 17 is needed to start menarche. Young ballet dancers, long-distance runners, and gymnasts often start their pubertal development and attain menarche at an age significantly older than the average. African American girls, as a group, experience initial pubertal changes and menarche up to a year earlier than white girls.

2.
(B)
Breast budding in most girls signals the start of puberty. As opposed to boys, most of whom attain peak height velocity at SMR 4, the adolescent girl’s growth spurt is an early pubertal event. Peak height velocity in girls occurs before they reach SMR B3 and PH 2. Although linear growth later decelerates, the average girl is expected to grow 2-3 inches in the 2 years following menarche.

The mean interval from breast development to menarche is 2.3 years. Menarche is a relatively late event in pubertal development and occurs in 66% of girls at SMR 4. Only 25% of girls attain menarche at SMR 3. An additional 10% start menses at SMR 5. Approximately 95-97% of girls have reached menarche by age 16 years and 98% by age 18 years.

3.
(E)
All of the above. Primary amenorrhea is defined as the absence of spontaneous uterine bleeding by age 14 years in a girl with absence of secondary sex characteristics and by age 16 years in a girl regardless of the presence of normal secondary sex characteristics. Girls with no menstrual flow a year after attaining SMR 5 or 4 years after onset of puberty also meet criteria for the diagnosis of primary amenorrhea.

4.
(B)
The differential diagnosis of primary amenorrhea includes conditions resulting from hypothalamic, pituitary, or ovarian dysfunction and those resulting from abnormal development of the lower genital tract. Given this patient’s clinical presentation, the most likely diagnosis would be functional hypothalamic amenorrhea. Eating disorders, severe or prolonged illness, stress, and exercise are common contributing factors in the pathogenesis of this condition. Functional hypothalamic amenorrhea is characterized by abnormal hypothalamic secretion of gonadotropin-releasing hormone (GnRH), low or normal LH, absent LH surges, anovulation, and low serum concentrations of estradiol. Both weight loss below a certain level (approximately 10% below ideal body weight or a BMI less than 17) and exercise can lead to amenorrhea. Constitutional delay of growth and maturation, a common condition in boys, is a relatively rare cause of primary amenorrhea.

5.
(D)
Of the conditions listed above, only pure gonadal dysgenesis with streak gonads would present with absent breast development.

6.
(D)
Turner syndrome is the most common cause of primary gonadal failure in adolescent girls and is characterized by ovarian dysgenesis (accelerated stromal fibrosis and decreased or absent oocyte production), short stature, a wide variety of phenotypical abnormalities, a 45,X0 karyotype, and increased gonadotropin concentration. Stigmata of Turner syndrome include micrognathia, a higharched palate, ptosis, epicanthal folds, prominent ears, hearing loss, short webbed neck with low hairline, broad chest, coarctation of the aorta, hypertension, cubitus valgus, renal abnormalities (malrotation, horseshoe kidneys, hydronephrosis), and lymphedema (see
Figure 73-1
).

Eating disorders, competitive athletics, and chronic disease are among the hypothalamic causes of primary amenorrhea that therefore present with decreased levels of gonadotropins. Kallmann syndrome is a genetic defect leading to isolated GnRH deficiency. It is much more common in boys than in girls. Clinical features include delayed sexual maturation, anosmia or hyposmia, and midline facial defects.