How To Treat Kallmann Syndrome

Kallmann syndrome is an uncommon genetic disorder characterized by a marked delay or complete absence of indications of puberty and an apparent impairment or absence in the sense of smell. Kallmann syndrome occurs in an individual because they have a deficiency in a hormone called gonadotropin-releasing hormone (GnRH) caused by one or more inherited genetic mutations. Symptoms of Kallmann syndrome include failure of puberty onset, poor sense of smell, cleft lip, cleft palate, a missing kidney, deafness, abnormally short digits, abnormalities in eye movement, delayed growth spurt, poor sexual function, scoliosis, poor balance, mirror movements, and absence of pubic hair growth. Diagnosis of Kallmann syndrome is made with Tanner staging criteria in a physical examination, biochemical testing of sex steroids and gonadotropin levels, MRI scans, UPSIT test, and molecular genetic testing.