Journal of Clinical and Translational Endocrinology Case Reports · Published 2026-07-07 · DOI 10.1016/j.jecr.2026.100221
Rayan Saad Aldeen Mohammed Saad Aldeen, Tarig Fadelelmoula, Muhammad S. Masoud, Abdalmajeed Alnour Almubark
Background: Cushing's disease (CD) is a rare yet significant cause of secondary hyperandrogenism and menstrual disturbances in women of reproductive age. The clinical manifestations of CD may closely resemble those of polyendocrine metabolic ovarian syndrome (PMOS), potentially resulting in delayed diagnosis and increased risk of complications. Accurate differentiation between these conditions requires thorough clinical assessment and a systematic biochemical evaluation. Case presentation: A 20-year-old nulligravid woman experienced a two-year progression of menstrual irregularities culminating in amenorrhea, along with hirsutism, acne, and proximal muscle weakness. Physical examination identified classic cushingoid features, including facial plethora, dorsocervical and supraclavicular fat pads, wide violaceous striae, and skin thinning with ecchymosis. Biochemical analysis revealed severe hyperandrogenism with inappropriately suppressed gonadotropins. Hypercortisolism was confirmed by loss of the diurnal cortisol rhythm and failure to suppress cortisol during dexamethasone suppression testing. Elevated plasma ACTH indicated an ACTH-dependent process, and high-dose dexamethasone suppression testing suggested a pituitary origin. Pituitary MRI detected a 6 mm microadenoma. The patient underwent transsphenoidal resection, and histopathology confirmed a benign corticotropin-secreting pituitary adenoma. Postoperative cortisol levels were appropriately low, requiring hydrocortisone replacement therapy. At three-month follow-up, menstrual cycles resumed and androgen levels normalized.Although inferior petrosal sinus sampling was not available in this setting, the diagnosis was substantiated by biochemical, radiological, histopathological, and postoperative evidence. Conclusions: This case highlights the diagnostic challenges of Cushing's disease presenting with significant hyperandrogenism and menstrual irregularities, which may initially be diagnosed as PMOS. Maintaining a high level of clinical suspicion and performing systematic biochemical screening for hypercortisolism are essential in young women with a PMOS-like presentation, especially when atypical features such as proximal muscle weakness, violaceous striae, or cushingoid habitus are present. Early recognition and diagnosis are vital to prevent prolonged hypercortisolemia and its related morbidity.
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Aldeen, R., Fadelelmoula, T., Masoud, M., et al. (2026). Cushing disease misdiagnosed as Polyendocrine Metabolic Ovarian Syndrome: A case of an ACTH-secreting pituitary microadenoma presenting with severe hyperandrogenism. Journal of Clinical and Translational Endocrinology Case Reports. https://doi.org/10.1016/j.jecr.2026.100221