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Szablon:Copy edit Szablon:Infobox medical condition (new) Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form 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 or a reduced sense of smell.[1][2][3] If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably be infertile and be at increased risk of developing osteoporosis.[1] A range of other physical symptoms affecting the face, hands and skeletal system can also occur.[2]
The underlying cause is a failure in the correct production or activity of GnRH hormone by the hypothalamus. This results in low levels of the sex hormones testosterone in males or oestrogen and progesterone in females. Diagnosis normally occurs during teenage years when puberty fails to start.[3]
Treatment for both males and females is normally required life long. Hormone replacement therapy (HRT) is the major form of treatment with the aim to replace the missing testosterone or oestrogen and progesterone. Specialised fertility treatments are also available.[4]
The condition is more commonly diagnosed in males than in females.[5] A 2011 study of the Finnish population produced an estimated incidence of 1 in 48,000 people overall, with 1 in 30,000 for males and 1 in 125,000 for females.[6] Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American geneticist.[7][8] The link between anosmia and hypogonadism had already been noted by Spanish doctor Aureliano Maestre de San Juan in 1856.[9][10]