MON-256 Virilization of a Female Infant Secondary to Maternal Krukenberg Tumor During Pregnancy

Abstract Disclosure: M.F. Henriquez Abramuk: None. A. Diaz: None. A. Carrillo-Iregui: None. A. Vargas-Espana: None. G. Rivera Rodriguez: None. A. Granados: None. Background: Although the most common cause of virilization in the female fetus is congenital adrenal hyperplasia (CAH), which affects approximately 1 in 15,000 to 1 in 17,000 newborns (both males and females), other causes of virilization in the female fetus need to be evaluated. If maternal virilization during pregnancy is also documented, conditions such as pregnancy luteomas, aromatase deficiency, and Krukenberg tumors should be suspected. Case Report: A full-term female was unexpectedly found to have ambiguous genitalia, as prenatal testing reported a 46,XX fetus. Upon physical examination, she was noted to have clitoromegaly (phallus of 2.5 cm), fused labial folds, a urogenital opening at the base of the phallus, and no palpable gonads. A pelvic ultrasound reported a uterus. Karyotype analysis revealed 46,XX, and 17-Hydroxyprogesterone was 87 ng/dL. Genetic testing for Disorders of Sex Development (DSD) (Invitae: 53 genes) was negative including CYP19A1 and CYP11B1. Family history was significant for maternal virilization during pregnancy, including acne, facial hair, deepening of voice, and clitoromegaly, beginning in the first trimester. Ovarian masses were identified during pregnancy and were resected at the time of delivery. Pathology reported Signet Ring Cell Carcinoma (Krukenberg tumor), an ovarian metastasis of a primary gastrointestinal tumor. Conclusion: This case underscores the importance of a complete clinical history in any virilized girl. When maternal virilization during pregnancy is identified, conditions such as Krukenberg tumors should be included in the differential diagnosis. This is particularly important since approximately 20% of newborns with congenital adrenal hyperplasia may be missed by newborn screening. Presentation: Monday, July 14, 2025