ESPE Abstracts

Background: Exposure to intrauterine adrenocortical tumors (IATs) is an exceedingly rare of virilization in females. We present the case of a virilized female infant, born after diagnosis of a maternal adrenocortical tumor, diagnosed in pregnancy. To the best of our knowledge, this is the first such case to be reported.

Case Presentation: The mother conceived a dichorionic diamniotic twin pregnancy following clomiphene induction due to a history of infertility. During routine first-trimester pregnancy, a large abdominal mass was discovered. Termination of pregnancy was advised, but the mother chose to continue the pregnancy. She proceeded to tumor excision, which confirmed a large adrenocortical carcinoma. Mother underwent planned emergency caesarean section at 31 weeks’ gestation. The female twin had DSD (Prader Stage 4), with a single urethral opening, rudimentary sac, and no palpable gonads. Her male sibling was healthy.

Results: A comprehensive diagnostic evaluation, including laboratory investigations and imaging studies, were performed on the infant to determine the underlying cause of DSD. Karyotype confirmed XX. Abdominal ultrasound showed normal female internal organs with cloacal abnormality and an enlarged left adrenal gland with an irregular nodule. She had elevated testosterone, DHEAS, and 17-hydroxypregnenolone levels. This prompted concern regarding transplacental metastasis, however a skeletal survey and other imaging did not show evidence of this. The hyperandrogenism persisted until 9 months of age, when normalization of adrenal androgens was observed. Repeat ultrasound and MRI confirmed resolution of the nodular adrenal enlargement.

Conclusion: This case highlights the importance of careful and rigorous evaluation in a very complex case, rendered more challenging due to persistent hyperandrogenism, coupled with the finding of a possible adrenal mass in the infant, raising the question of transplacental metastasis.