Endocrine Abstracts

The LH receptor is a member of the large receptor family of GTP-binding protein coupled receptors. Mutations in the LH receptor gene cause severe sex hormone-related disease, ranging from very early precocious puberty in boys (activating mutation) to slight undervirilization, severe hypospadias or complete 46XY pseudohermaphroditism (inactivating mutation). Thus, LH receptor gene mutations have profound effects on sex hormone production and on physiology of patients. In additi...