Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

    July 2008 in “ The Journal of Clinical Endocrinology and Metabolism ”
    Gareth G. Lavery, Elizabeth A. Walker, Ana Tiganescu, J.P. Ride, Cedric Shackleton, Jeremy W. Tomlinson, John Connell, David Ray, Anna Biason-Lauber, E Małunowicz, Wiebke Arlt, Paul M. Stewart
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    TLDR Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
    The 2008 study focused on Cortisone Reductase Deficiency (CRD) and identified inactivating mutations in the hexose-6-phosphate dehydrogenase (H6PD) gene as the cause of the condition. The research included four patients with hyperandrogenism and CRD biochemical markers. Genetic sequencing revealed three homozygous mutations (R109AfsX3, Y316X, G359D) and one compound heterozygous mutations (c.960G-A and D620fsX3) in the H6PD gene. Functional assays confirmed these mutations resulted in loss of H6PDH enzyme function. The study concluded that CRD results from these mutations, which impair the 11B-HSD1 enzyme's ability to regenerate local glucocorticoids, affecting the hypothalamic-pituitary-adrenal axis.
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