Frontiers in Medicine (Dec 2023)

Cushing’s syndrome caused by ACTH precursors secreted from a pancreatic yolk sac tumor in an adult—a case report and literature review

  • Johnny Yau Cheung Chang,
  • Chariene Shao Lin Woo,
  • Wing Sun Chow,
  • Anne White,
  • Ka Chung Wong,
  • Po Tsui,
  • Alan Chun Hong Lee,
  • Eunice Ka Hong Leung,
  • Yu Cho Woo,
  • Kathryn Choon Beng Tan,
  • Karen Siu Ling Lam,
  • Chi Ho Lee,
  • David Tak Wai Lui

DOI
https://doi.org/10.3389/fmed.2023.1246796
Journal volume & issue
Vol. 10

Abstract

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Here, we report the first adult case of pancreatic yolk sac tumor with ectopic adrenocorticotropic hormone (ACTH) syndrome. The patient was a 27-year-old woman presenting with abdominal distension, Cushingoid features, and hyperpigmentation. Endogenous Cushing’s syndrome was biochemically confirmed. The ACTH level was in the normal range, which raised the suspicion of ACTH precursor-dependent disease. Elevated ACTH precursors were detected, supporting the diagnosis of ectopic ACTH syndrome. Functional imaging followed by tissue sampling revealed a pancreatic yolk sac tumor. The final diagnosis was Cushing’s syndrome due to a yolk sac tumor. The patient received a steroidogenesis inhibitor and subsequent bilateral adrenalectomy for control of hypercortisolism. Her yolk sac tumor was treated with chemotherapy and targeted therapy. Cushing’s syndrome secondary to a yolk sac tumor is extremely rare. This case illustrated the utility of ACTH precursor measurement in confirming an ACTH-related pathology and distinguishing an ectopic from a pituitary source for Cushing’s syndrome.

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