Abstract
The steroid 5α-reductase enzyme 2 is one of two isoenzymes able to reduce the steroid molecule across the 4-5 double bond.
Its essential function in development is catalysing the conversion of testosterone to the active androgen, dihydrotestosterone, required for the development of the male external genitalia. Enzyme deficiency can thus lead to genital ambiguity and incorrect gender assignment. The enzyme also plays a role in the metabolism of cortisol and other steroids in the liver, and thus deficiency can be detected by an abnormal steroid profile in urine.
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Diagnosis
Ahmed SF, Achermann JC, Arlt W, et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin Endocrinol. 2011;75:12–26.
Berra M, Williams EL, Muroni B, Creighton SM, Honour JW, Rumsby G, Conway G. Recognition of 5α-reductase 2 deficiency in an adult female 46XY DSD clinic. Eur J Endocrinol. 2011;164:1019–25.
Chan AOK, But BWM, Lau GTC, Lam ALN, Ng KL, et al. Diagnosis of 5alpha-reductase deficiency: a local experience. Hong Kong Med J. 2009;15:130–5.
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Rumsby, G. (2019). Steroid 5α-Reductase Deficiency. In: Rumsby, G., Woodward, G. (eds) Disorders of Steroidogenesis. Springer, Cham. https://doi.org/10.1007/978-3-319-96364-8_11
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DOI: https://doi.org/10.1007/978-3-319-96364-8_11
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