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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 males 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 males, although there have been rare cases of Kallman Syndrome among females, 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 gonadal and 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.
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Other symptoms also associated with Kallman Syndrome include gynecomastia, bimanual synkinesis (one hand copying the movements of the other hand), shortened fourth metacarpal bone and an absent kidney.
The life span of an affected individual is generally not altered by Kallman Syndrome. Treatment of this disease involves hormone, estrogen or testosterone, replacement, and pulsatile GnRH or repeated hCG injections. Patients may undergo fertility treatment later in life if they desire to have children.
Couples with a familial history of Kallman Syndrome may reduce their risk of having a child affected with this disease through a new technology called Preimplantation Genetic Diagnosis (PGD). In PGD, embryos are tested for genetic abnormalities and their gender is determined. Only genetically healthy embryos are implanted. Through this mechanism, the chances of having an affected child can be greatly reduced. Due to complex inheritance patterns couples at risk should seek the advice of a genetic counselor to determine whether PGD will be beneficial. PGD can currently test for a variety of other genetic disorders and is continually being improved to include other genetic diseases.