Inborn errors of steroid metabolism

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Inborn error of steroid metabolism
SpecialtyMedical genetics, Endocrinology Edit this on Wikidata

An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.


A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which include:


Androgen- and estrogen-specific[edit]

Glucocorticoid- and mineralocorticoid-specific[edit]


In addition, several conditions of abnormal steroidogenesis due to genetic mutations in receptors, as opposed to enzymes, also exist, including:

No activating mutations of the GnRH receptor in humans have been described in the medical literature,[1] and only one of the FSH receptor has been described, which presented as asymptomatic.[2][3]

See also[edit]


  1. ^ Karges B, Karges W, de Roux N (2003). "Clinical and molecular genetics of the human GnRH receptor". Human Reproduction Update. 9 (6): 523–30. doi:10.1093/humupd/dmg040. PMID 14714589.
  2. ^ Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (3 December 2009). Andrology: Male Reproductive Health and Dysfunction. Springer. p. 226. ISBN 978-3-540-78354-1. Retrieved 11 June 2012.
  3. ^ Mark A. Sperling (25 April 2008). Pediatric Endocrinology E-Book. Elsevier Health Sciences. p. 35. ISBN 978-1-4377-1109-7. Retrieved 11 June 2012.

Further reading[edit]

External links[edit]