Inborn errors of steroid metabolism

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

Types[edit | edit source]

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

Generalized[edit | edit source]

Androgen- and estrogen-specific[edit | edit source]

Glucocorticoid- and mineralocorticoid-specific[edit | edit source]

Miscellaneous[edit | edit source]

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 | edit source]

References[edit | edit source]

Further reading[edit | edit source]

External links[edit | edit source]

Classification

This template is no longer used; please see Template:Endocrine pathology for a suitable replacement

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Contributors: Prab R. Tumpati, MD