Clinical Scenario:
A 4-year-old girl is brought with heavy vaginal bleeding for 3 days, with passage of clots. She had a similar but mild episode of vaginal bleeding at the age of 2 years, which settled spontaneously. There is no history of trauma, vaginal foreign body, or bleeding from other sites.
On examination, she has breast development appropriate for Tanner stage III, but there is no axillary or pubic hair. Her height is above the expected percentile for age. Bone age is advanced by 2 years.
Her CBC, platelet count, PT and aPTT are normal. Serum FSH and LH are suppressed, while estradiol is markedly elevated. Pelvic ultrasonography reveals a unilateral ovarian mass.
What is the most likely diagnosis?
A. Dysgerminoma
B. Juvenile granulosa cell tumor
C. Sertoli-Leydig cell tumor
D. Yolk sac tumor
E. Mature cystic teratoma
Correct answer & Explanation:
Correct answer: B. Juvenile granulosa cell tumor
Explanation:
This child has peripheral (gonadotropin-independent) precocious puberty, demonstrated by vaginal bleeding, breast development, advanced bone age, markedly elevated estradiol and suppressed LH/FSH. The ovarian mass indicates an ovarian source of estrogen.
Juvenile granulosa cell tumor is the classic estrogen-secreting ovarian tumor in children. Excess estrogen causes breast development, accelerated growth and bone maturation, with episodic vaginal bleeding due to endometrial stimulation.
The absence of pubic/axillary hair is also consistent with estrogen-mediated puberty without significant androgen excess.
Key exam clue:
Young girl + recurrent vaginal bleeding + breast development + high estradiol + suppressed LH/FSH + ovarian mass = juvenile granulosa cell tumor.
Why the other options are less likely:
- Dysgerminoma: Most common malignant germ-cell tumor but generally does not produce estrogen.
- Sertoli-Leydig cell tumor: Produces androgens and causes virilization.
- Yolk sac tumor: Produces AFP and does not typically cause estrogen-mediated precocious puberty.
- Mature cystic teratoma: Usually hormonally inactive.
