Inborn error of steroid metabolism | |
---|---|
![]() | |
Steroidogenesis | |
Specialty |
Medical genetics,
endocrinology
![]() |
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.[ citation needed]
A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which include:
In addition, several conditions of abnormal steroidogenesis due to genetic mutations in receptors, as opposed to enzymes, also exist, including:[ citation needed]
No activating mutations of the GnRH receptor in humans have been described in the medical literature, [3] and only one of the FSH receptor has been described, which presented as asymptomatic. [4] [5]
Inborn error of steroid metabolism | |
---|---|
![]() | |
Steroidogenesis | |
Specialty |
Medical genetics,
endocrinology
![]() |
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.[ citation needed]
A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which include:
In addition, several conditions of abnormal steroidogenesis due to genetic mutations in receptors, as opposed to enzymes, also exist, including:[ citation needed]
No activating mutations of the GnRH receptor in humans have been described in the medical literature, [3] and only one of the FSH receptor has been described, which presented as asymptomatic. [4] [5]