Abstract
The 3β-hydroxysteroid dehydrogenase/isomerase (3βHSD2) enzyme plays an essential role in the synthesis of mineralocorticoids, glucocorticoids and gonadal steroids. Enzyme deficiency therefore has profound effects on adrenal and gonadal function and is a rare cause of salt-losing congenital adrenal hyperplasia and of 46XY and 46XX disorders of sex development (DSD). The disorder is characterised by excretion of excessive amounts of steroids with a double bond in the steroid B ring, the so-called Δ5 steroids, including dehydroepiandrosterone (DHEA) and its metabolites.
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Further Reading
Diagnosis
Lutfallah C, Wang W, Mason I, Chang YT, et al. Newly proposed hormonal criteria via genotypic proof for type II 3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2002;87:2611–22.
Steroid Profiling
Wolthers BG, de Vries IJ, Volmer M, Nagel GT. Detection of 3β-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis. Clin Chim Acta. 1987;169:109–16.
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Rumsby, G. (2019). 3β-Hydroxysteroid Dehydrogenase/Isomerase Deficiency. In: Rumsby, G., Woodward, G. (eds) Disorders of Steroidogenesis. Springer, Cham. https://doi.org/10.1007/978-3-319-96364-8_6
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DOI: https://doi.org/10.1007/978-3-319-96364-8_6
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Publisher Name: Springer, Cham
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