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Inborn errors of steroid metabolism

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Inborn error of steroid metabolism

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

Glucocorticoid- and mineralocorticoid-specific


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


Further reading

External links


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