Kallmann syndrome | |
---|---|
Other names | Kallmann's hereditary anosmia |
Specialty | Endocrinology |
Symptoms | Absent or delayed puberty, infertility, inability to smell |
Complications | Osteoporosis |
Usual onset | Present at birth |
Duration | Lifelong |
Treatment | Hormone replacement therapy Gonadotropin therapy |
Frequency | 1:30,000 (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 a form of a group of conditions termed hypogonadotropic hypogonadism.[1] 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.[2][3][4] If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably are infertile and are at increased risk of developing osteoporosis.[2] A range of other physical symptoms affecting the face, hands and skeletal system can also occur.[3]
US Library of Medicine Genetics Home Reference
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