TLDR Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
In 2010, a 60-year-old man with mild intellectual disability presented with acute-onset diplopia and ataxic gait, and was found to have a left cerebellar infarct and polycythaemia. Further investigations revealed a 46, XX karyotype and features consistent with congenital adrenal hyperplasia (CAH), including very high corticotropin concentrations, subnormal cortisol response, and high serum concentrations of 17-hydroxyprogesterone and androstenedione. The patient's polycythaemia was treated with regular venesection, and glucocorticoid therapy was initiated, which led to a substantial decrease in adrenal size. The case highlights the harmful effects of untreated CAH, including severe adrenal hyperplasia with increased androgen production, which can lead to polycythaemia and potentially increase the risk of stroke. The importance of glucocorticoid therapy in managing CAH to prevent future adrenal crises and androgen excess was emphasized.
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