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◆ BMJ case reports2026-08-14

Congenital adrenal hyperplasia, ovarian adrenal rest tumours and Addison's disease: an exceptional clinical constellation.

Yara Emara, Svenja Leibnitz, Anna Lauber-Biason, Richard J Auchus, Christoph T Berger, Nikolaos Ntoulias, Claudia Cavelti-Weder, Bettina Winzeler

原始摘要(英文原文)· Original abstract
We report a woman in her 20s with congenital adrenal hyperplasia (CAH) due to a clinical diagnosis of 11β-hydroxylase deficiency, bilateral ovarian adrenal rest tumours (OARTs), autoimmune Addison's disease and premature ovarian insufficiency. Despite the combination of CAH and OARTs, she conceived spontaneously twice, with complete regression of the tumours under glucocorticoid therapy. Years later, she developed an Addisonian crisis confirmed by positive 21-hydroxylase antibodies and subsequently manifested ovarian failure and mineralocorticoid deficiency. This case illustrates the rare coexistence of distinct adrenal and ovarian pathologies, highlights the potential reproductive impact of OARTs and underscores the need for further study and standardised management strategies.
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Congenital adrenal hyperplasia, ovarian adrenal rest tumours and Addison's disease: an exceptional clinical constellation. — 科研速览 Science Skim