The Hematologic System ATI Related

Review The Hematologic System ATI related questions and content

You have been asked to see a 15-year-old girl who is being referred for evaluation of an ovarian mass. Her history is also significant for secondary amenorrhea, and physical examination shows signs of virilization. As you review her family history, what syndrome will you consider?

  • A. Li-Fraumeni syndrome
  • B. DICER-1 syndrome
  • C. Turner syndrome
  • D. Beckwith-Wiedemann syndrome
Correct Answer: B

Rationale: The correct answer is B: DICER-1 syndrome. This syndrome is associated with ovarian tumors, secondary amenorrhea, and signs of virilization. DICER-1 gene mutations can lead to the development of Sertoli-Leydig cell tumors, which can present with these symptoms in adolescent girls. Li-Fraumeni syndrome (A) is characterized by a predisposition to various cancers but not specifically ovarian tumors. Turner syndrome (C) is associated with ovarian dysgenesis leading to primary amenorrhea, not secondary amenorrhea and virilization. Beckwith-Wiedemann syndrome (D) is a genetic overgrowth syndrome with a risk of embryonal tumors but not typically ovarian masses with virilization.