Kallman syndrome
| Kallmann syndrome | |
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| Specialty | endocrinology |
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Kallmann syndrome is a rare genetic disorder that affects the natural production of hormones that initiate and complete puberty. It also impairs the function and proper development of the olfactory bulb in a variety of ways, resulting in a defective sense of smell (anosmia). The anosmia may be partial or total. Some forms of Kallmann syndrome may also be associated with additional symptoms involving the ears, eyes, hands, kidneys, teeth or face (cleft palate). If left untreated, people with Kallmann syndrome will almost invariably be infertile.
Kallmann syndrome is a form of hypogonadotropic hypogonadism (HH). Apart from the sense of smell there is no difference in the diagnosis or treatment between a case of HH or a case of Kallmann syndrome. Kallmann syndrome is predicated on the impairment of the hypothalamus to release the hormone GnRH. In normal circumstances a cascade of hormonal activity in the HPG axis initiates and completes puberty and maintains proper levels of testosterone, oestrogen and progesterone throughout life. Without the hormones LH and FSH, which are normally produced by the pituitary gland under the influence of GnRH, the ovaries and testes remain dormant with isolated exceptions.
It is three to five times more common in males than females. Hypogonadotropic hypogonadism is estimated to affect between 1 in 4,000 and 1 in 10,000 males, of which about a half are Kallmann syndrome cases. It is unclear whether this is a true gender imbalance or whether it is due to under-diagnosis in females. A 2011 estimate in the Finnish population was 1 in 48,000 people overall, with 1 in 30,000 for males and 1 in 125,000 for females. Kallmann syndrome was described in a paper published in 1944 by Franz Josef Kallmann, a German-American geneticist. The link between anosmia and hypogonadism had already been noted however, in particular by the Spanish doctor Aureliano Maestre de San Juan in 1856.
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