Adrenal (Excluding Mineralocorticoids)

SAT-491 - A Catecholamine-Secreting Adrenal Tumor Discovered via Noninvasive Prenatal Screening in A Pregnant Patient with Lynch Syndrome

Saturday, June 13, 2026

9:30 AM - 4:30 PM CT

Location: ENDOExpo; Poster Floor

Abstract Poster Presenter(s)

KZ

Kaleena X. Zhang, MD (she/her/hers)

Endocrinology Fellow
STANFORD UNIVERSITY MEDICAL CENTER
Stanford, California, United States

Co-Author(s)

CS

Carolyn D. Seib, MD, MAS

Stanford University
Stanford, California, United States
AJ

Amy Judy, MD

STANFORD UNIVERSITY MEDICAL CENTER
Stanford, California, United States
WH

Whitney Heinrichs, MS, LCGC

Senior Genetic Counselor
STANFORD UNIVERSITY MEDICAL CENTER
Stanford, California, United States
SB

Sarah Banerji, MD

STANFORD UNIVERSITY MEDICAL CENTER
Stanford, California, United States
CT

Christina G. Tise, MD, PhD, FACMG

Assistant Professor
STANFORD UNIVERSITY MEDICAL CENTER
Stanford, California, United States
KF

Karen Fernandez, MD

STANFORD UNIVERSITY MEDICAL CENTER
Stanford, California, United States

Senior Author/Primary Investigator(s)

JC

Julie Chen (she/her/hers)

Clinical Associate Professor
STANFORD University MEDICAL Center
Palo Alto, CA, United States

Co-Author(s)

JC

Julie Chen (she/her/hers)

Clinical Associate Professor
STANFORD University MEDICAL Center
Palo Alto, CA, United States

In adults, adrenal tumors are commonly found incidentally but are rarely diagnosed during pregnancy. Pheochromocytomas, adrenocortical carcinomas, and metastases are the most common malignant adrenal masses. Neuroblastomas are neural crest-derived tumors that rarely present in adulthood. Similar to pheochromocytomas and paragangliomas, they produce catecholamines. We describe a case of an asymptomatic young pregnant woman who was found to have a large adrenal mass and elevated plasma normetanephrines after an abnormal cell-free DNA (cfDNA) result during prenatal screening.

A 19-year-old pregnant woman recently diagnosed with Lynch syndrome via testing of an affected family member had an abnormal cfDNA screening result at 15 weeks gestation that showed >3 aneuploidy, concerning for maternal malignancy. A full body MRI revealed a 14.5 cm right adrenal mass. Biochemical testing showed elevated plasma free normetanephrines (6.0 nmol/L; normal: < 0.90) and urine normetanephrines (3438 mcg/24 hours; normal: 81-330) thought to be most likely a pheochromocytoma or paraganglioma. There was initial concern for adrenocortical carcinoma, but androstenedione, dehydroepiandrosterone sulfate, 17-hydroxyprogesterone, and urine free cortisol were within the reference range for pregnancy. Neuroblastoma was also considered but thought to be less likely given their rarity in adults and lack of association with Lynch syndrome. She underwent serial MRI imaging to monitor the adrenal mass for growth and signs of invasion. Although the patient was asymptomatic with normal blood pressure, she was initiated on doxazosin to reduce the risk of hypertensive crisis. Patient underwent an uncomplicated Cesarean section at 33 weeks gestation. Six weeks later, she had surgical excision of the adrenal mass with pathology revealing poorly differentiated neuroblastoma with metastasis to the retroperitoneal lymph nodes.

Our case highlights the importance of including neuroblastoma in the differential diagnosis of a catecholamine-secreting adrenal mass in a young adult patient. Neuroblastomas are extremely rare in adults and are rarely associated with Lynch syndrome. To our knowledge, this case represents the first case of a neuroblastoma identified through cfDNA screening from maternal blood.

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