What’s Kallmann Syndrome?

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Kallmann syndrome is a rare X-linked condition affecting the adrenal glands, causing a deficiency of hormones needed for sexual development. Symptoms are not apparent until puberty, and diagnosis requires a blood sample. Treatment involves regular hormone injections to develop secondary sex characteristics and fertility. Anosmia is a common associated condition.

Kallmann syndrome is a rare sex-related condition that occurs in less than 0.025% of the population. Its occurrence is more common in males than in females. It is an X-linked trait and affects the adrenal glands, causing a deficiency of important endocrine hormones needed for proper sexual development. Although difficult to detect at first, if the condition is not treated, absence or underdevelopment of the secondary sex organs can occur and infertility can also result.

It is difficult to detect whether a person has Kallmann syndrome mainly because the symptoms are not apparent until the patient is old enough to reach puberty. The mechanisms underlying the onset of puberty are still being studied, so the effects of hormones in relation to puberty are not fully understood. When Kallmann syndrome is suspected, an analysis of the blood sample is required for a correct diagnosis.

Sex hormones are a type of steroid hormones that are released by signals from the hypothalamus within the brain. During puberty, the hypothalamus will release gonadotropin-releasing hormone (GnRH), which will then release the gonadotropin into the bloodstream. The release of this hormone starts a cascade of events that helps kick-start the puberty process. The gonadotropin release will act as a signal to the adrenal glands to release the sex hormones estrogen and testosterone, which help initiate puberty.

In people with Kallmann syndrome, the adrenal glands don’t work properly due to decreased levels of GnRH. Low GnRH levels mean there are lower levels of gonadotropin released. This, in turn, causes little or no release of sex hormones into the bloodstream.

The main problem caused by Kallmann syndrome is the delayed onset of puberty and the development of secondary sexual characteristics. This can be compensated for if the patient receives regular injections of sex hormones to counteract the decreased levels of sex hormones. When males are treated with testosterone and females are treated with estrogen, this allows normal secondary sex characteristics to develop.

Some patients with Kallmann syndrome have fertility problems. This can be counteracted by another form of hormone therapy, which makes the patient temporarily fertile. Another common condition associated with this syndrome is the inability to distinguish between different types of odors, a condition known as anosmia.




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