Pediatric Examination and Board Review (61 page)

19.
(B)
Tall stature as an adult. One of the most significant consequences of untreated, rapidly progressive precocious puberty is rapid advancement of bone maturation with early epiphyseal fusion and short stature as an adult. Predicted adult height is a major factor in the decision as to which children will need therapy for precocious puberty.

20.
(E)
More than 40%. Pubertal gynecomastia occurs in greater than 40% of boys in mid-puberty. It can vary from breast buds to significant breast tissue. It typically resolves within 2-3 years. The cause of pubertal gynecomastia has been studied for decades, with conflicting results. It may be due to an imbalance in the ratio of testosterone to estrogen. It is more prevalent in obese boys, likely related to increased aromatase in adipose tissue. Aromatase converts testosterone to estradiol, thus leading to increased estradiol in peripheral tissues. Other pathologic etiologies include acquired testicular failure, biosynthetic defects in testosterone production, testicular or liver tumors, and hyperthyroidism. Gynecomastia can also be a consequence of several drugs, including spironolactone, cimetidine, digitalis, phenothiazine, and marijuana. Treatment usually consists of reassurance and psychosocial support, with weight loss in obese boys. Surgical removal of excess breast tissue is indicated in those boys in whom the gynecomastia does not regress in 3 years. Medical therapy is usually not indicated.

S
UGGESTED
R
EADING

Hughes IA. The testes: disorders of sexual differentiation and puberty in the male. In: Sperling MA, ed.
Pediatric Endocrinology.
3rd ed. Philadelphia, PA: WB Saunders; 2008:662-685.

Muir A. Precocious puberty.
Pediatr Rev.
2006;27:373-381.

Rodriguez H, Pescovitz OH. Precocious puberty: clinical management. In: Radovick S, MacGillivray MH, eds.
Pediatric Endocrinology
,
A Practical Clinical Guide
. Totowa, NJ: Humana Press; 2003:399-428.

Rosenfield RL, Cooke DW, Radovick S. Puberty and its disorders in the female. In: Sperling MA, ed.
Pediatric Endocrinology.
3rd ed. Philadelphia, PA: WB Saunders; 2008:530-609.

CASE 39: A 14-YEAR-OLD WITHOUT ANY SIGNS OF PUBERTY

A 14-year-old child is brought into your office because of concerns of lack of pubertal development. The parents report that the child has otherwise been healthy, but the child has been complaining that all of his/her friends seem to be getting much taller than him/her. The child’s father is 6 feet tall and could not recall when he went through puberty, but he did remember being shorter than all of his friends in high school. The mother is 5'6" and had menarche at age 14 years. On physical examination, the child’s height is less than the 5th percentile, and weight for height is at the 30th percentile. The child is entirely prepubertal.

SELECT THE ONE BEST ANSWER

1.
What is the most likely diagnosis if this is a boy with a bone age of 11 years and his father grew 4 inches after high school?

(A) hypergonadotropic hypogonadism

(B) constitutional delay of puberty

(C) hypogonadotropic hypogonadism

(D) Klinefelter syndrome

(E) Kallmann syndrome

2.
What is the most likely diagnosis if this is a boy with a bone age of 14 years, who reports that he can’t smell well?

(A) Kallmann syndrome

(B) Noonan syndrome

(C) Klinefelter syndrome

(D) panhypopituitarism

(E) pituitary tumor

3.
What would be in your differential diagnosis if this were a boy with a bone age of 10 years and prepubertal gonadotropin levels?

(A) constitutional delay of puberty

(B) hypergonadotropic hypogonadism

(C) hypogonadotropic hypogonadism

(D) A and C

(E) all of the above

4.
If this were a girl with a bone age of 13 years, which diagnosis would be least likely?

(A) constitutional delay of puberty

(B) hypergonadotropic hypogonadism

(C) Turner syndrome

(D) hypogonadotropic hypogonadism

(E) panhypopituitarism

5.
Which of the following would be ruled out as a diagnosis if this child had pubic hair?

(A) constitutional delay in puberty

(B) hypergonadotropic hypogonadism

(C) hypogonadotropic hypogonadism

(D) Turner syndrome

(E) none of the above

6.
Which of the following issues in the medical history will help with your diagnosis of delayed puberty?

(A) nutritional habits

(B) exercise intensity

(C) prior medical history

(D) parents’ pubertal history

(E) all of the above

7.
Which of the following is the most common cause of delayed puberty in boys?

(A) Kallmann syndrome

(B) hypergonadotropic hypogonadism

(C) constitutional delay of puberty

(D) Klinefelter syndrome

(E) panhypopituitarism

8.
You want to order a bone age radiograph to assess skeletal maturation. What would you order?

(A) a radiograph of the right foot and ankle

(B) a radiograph of the left hand and wrist

(C) a radiograph of the right hand and wrist

(D) a radiograph of the left foot and ankle

(E) a radiograph of the skull

9.
At what age in a boy would you be concerned about delayed puberty?

(A) 12-year-old

(B) 13-year-old

(C) 14-year-old

(D) 15-year-old

(E) 16-year-old

10.
At what age in a girl would you be most concerned about delayed puberty?

(A) 11-year-old

(B) 12-year-old

(C) 13-year-old

(D) 14-year-old

(E) 15-year-old

11.
The first biochemical sign of maturation of the hypothalamic-pituitary-gonadal axis is which of the following?

(A) early morning rise of luteinizing hormone (LH) secretion

(B) late morning rise of LH secretion

(C) late afternoon rise of LH secretion

(D) early evening rise of LH secretion

(E) sleep-associated rise of LH secretion

12.
What should be included in your workup of delayed puberty?

(A) early morning gonadotropin levels

(B) late morning testosterone (boy) or estradiol (girl) levels

(C) afternoon testosterone (boy) or estradiol (girl) levels

(D) early evening gonadotropin levels

(E) early evening testosterone (boy) or estradiol (girl) levels

13.
Which of the following is a cause of primary hypogonadism?

(A) panhypopituitarism

(B) craniopharyngioma

(C) Kallmann syndrome

(D) anorexia nervosa

(E) Turner syndrome

14.
Which of the following is not a cause of hypogonadotropic hypogonadism?

(A) hypothyroidism

(B) hypothalamic dysfunction

(C) gonadal abnormality

(D) hypopituitarism

(E) anorexia nervosa

15.
Which of the following is not a feature of Turner syndrome?

(A) webbed neck

(B) low posterior hairline

(C) right-sided cardiac defects

(D) spooned nails

(E) renal anomalies

16.
Which of the following is not a feature of Klinefelter syndrome?

(A) short stature

(B) seminiferous tubule dysgenesis

(C) 47,XXY

(D) normal onset of puberty

(E) language difficulties