Could you "see" the disease?
no
Kallman Syndrome
Kallman Syndrome is a rare X-linked recessive disease characterized by reduced or complete absence of the sense of smell (anosmia), underdeveloped genitalia and sterile gonads. It affects primarily females at an incidence of 1 out of 10,000 and the disease becomes apparent when they fail to begin puberty and to develop secondary sexual characteristics. Kallman Syndrome is primarily an X-linked recessive disease affecting mainly females, although there have been rare cases of Kallman Syndrome among males, in which cases the disease was inherited as an autosomal recessive trait. Impaired or lack of sense of smell is caused by the absence of the olfactory bulbs. Kallman Syndrome also affects the hypothalamus. The hypothalamus produces reduced levels of GnRH, the hormone responsible for the secretion of the hormone LH. LH is the hormone that stimulates genital development. In some instances of Kallman Syndrome, GnRH is not produced at all. Decreased or absence of GnRH also causes reduced levels of other hormones including estrogen and testosterone. Patients are therefore at a greater risk for osteoporosis and brittle bone disease. Kallman Syndrome may also be associated with X-linked Ichthyosis and Conradi-Hunermann Syndrome.The patient looks decades younger than she actually is,ie: a 50 yr old woman will look 17 or 18 yrs of age,this can cause some problems in modern day society,Kallman Syndrome has affected as few as one hundred woman in the US
