Kallamann Syndrome (KS)

Kallmann syndrome (KS) is a rare genetic disorder characterized by the inability to start or complete puberty and having an impaired sense of smell. The reproductive features among men include small or undescended testicles, small penis, low testosterone level, and infertility. Those among women include failure to start menstruation, low LH, FSH, estrogen, and progesterone levels, and infertility.

The non-reproductive features include lack or reduced sense of smell, cleft palate or lip, hearing impairment, absence of one kidney, missing teeth, skeletal defects, poor body coordination, and eye defects.

KS is primarily caused by the mutation of various genes and is manifested by the incorrect production of gonadotropin-releasing hormone. There are more males than females who are affected by this condition. The main treatment is hormone replacement therapy. KS was first described in 1944 by Franz Josef Kallmann, a German-American geneticist.