Presentation of multiple endocrine neoplasia type 2A-associated ectopic cushing's syndrome: case report and a systematic review.

ABSTRACT:

Background

Multiple endocrine neoplasia type 2 (MEN 2)-related ectopic Cushing's syndrome (ECS) continues to present a clinical challenge due to its rarity and complexity. This study combines case analysis with a systematic literature review to elucidate the disease patterns.

Summary

We present a 55-year-old male with MEN 2-associated ECS caused by metastatic medullary thyroid carcinoma (MTC) and review 21 literature cases. The mean age of ECS diagnosis was 37.0 years (range: 13-72), with a male predominance (64%). MEN 2A (16 cases) and MEN2B (6 cases) involved RET exons 10, 11, 16, with MEN2B patients developed ECS earlier than MEN 2A (P = 0.002). Of these, 14 presented ECS due to advanced-MTC (50% with distant metastasis), with the diagnosis of ECS following

SUBMITTER: Wang W 

PROVIDER: S-EPMC12645412 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature