Inborn errors of steroid metabolism
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]