Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Definition
This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.
Also known as Chang-Davidson-Carlson syndrome — per MONDO