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 kallmann syndrome  

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What is it ?


the migration of the cells of hypothalamus is defectif in embrional causes Hypogonado tropic amenorhae,i think...


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.
Other symptoms 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 genetic counselling.


thanks dxtxpx smiling face

just to remember main points : absent GnRH + anosmia+ hypogonadism= kallmann syndrome.

What about hypogonadism+ colour blindness = ???


yeah i think Kallman has color blindness also :idea:


association of congenital hypogonadotropic hypogonadism with anosmia or hyposmia


yep colourblindness is also a feature of this syndrome smiling face


thanks useful points smiling face

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