ArticleJCEM case reports2026
Adult nonclassic P450 oxidoreductase deficiency diagnosed 11 years after reproductive-endocrine suspicion.
Article in JCEM case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Nonclassic P450 oxidoreductase (POR) deficiency (PORD) may remain suspected but unconfirmed in adult women with long-standing menstrual irregularity and infertility when skeletal anomalies, virilization, and overt adrenal insufficiency are absent. We report a 45-year-old Japanese woman in whom PORD had been suspected during infertility care at age 34 because of an inappropriately elevated, nonluteal progesterone value with no marked 17-hydroxyprogesterone elevation, but genetic testing was not pursued. Reevaluation for recurrent abnormal uterine bleeding and a large ovarian cyst prompted 3-point liquid chromatography-tandem mass spectrometry (LC-MS/MS) steroid profiling at baseline, after cosyntropin 250 µg, and during combined dexamethasone-hydrocortisone treatment. Adrenocorticotropic hormone (ACTH) stimulation produced disproportionate accumulation of adrenal steroid intermediates, which decreased markedly during combined glucocorticoid treatment, supporting ACTH-dependent adrenal steroid accumulation. Targeted
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