Kallmann syndrome

Kallmann syndrome
Other namesKallmann's hereditary anosmia
SpecialtyEndocrinology
SymptomsAbsent or delayed puberty, infertility, inability to smell
ComplicationsOsteoporosis
Usual onsetPresent at birth
DurationLifelong
TreatmentHormone replacement therapy
Gonadotropin therapy
Frequency1:30,000 (males), 1:125,000 (females)

Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is one of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell. If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably be infertile and at increased risk of developing osteoporosis. A range of other physical symptoms affecting the face, hands and skeletal system can also occur.