Kallmann syndrome - small panel

Individuals with Kallmann syndrome present features of congenital hypogonadotropic hypogonadism and impaired sense of smell. Hypogonadotropic hypogonadism is caused by a deficit of hormone secreted by hypothalamus – gonadoliberin, which is responsible for stimulating gonads to produce sex hormones. Most of the patients are diagnosed at the age of puberty, however, earlier diagnosis is often feasible based on cryptorchidism and penis underdevelopment. Untreated male individuals suffer from decreased bone density, low muscle mass, a smaller volume of testicles, fertility and libido disorders. Almost all affected females report the primary absence of menstrual bleeding and abnormal breast development. In rare cases additional disorders such as kidney defects, impaired hearing, cleft lip or palate and tooth development abnormalities.

Depending on the gene defect there are different manners of inheritance in this condition. It is estimated to affect 1 per 8,000 males and 1 per 40,000 females.