Gonadotropin-Releasing Hormone Insensitivity

Gonadotropin-releasing hormone insensitivity, also known as isolated gonadotropin-releasing hormone deficiency, is a rare autosomal recessive genetic and endocrine syndrome caused by inactivating mutations of the gonadotropin-releasing hormone receptor. The resulting insensitivity to gonadotropin-releasing hormone causes a partial or complete loss of the gonads' ability to make sex hormones, producing isolated hypogonadotropic hypogonadism with symptoms such as delayed, reduced, or absent puberty, low or absent libido, and infertility. It is the most common cause of isolated hypogonadotropic hypogonadism when the condition occurs without an accompanying loss of the sense of smell.