​Kallmann Syndrome​

A rare disorder of the genes, Kallmann’s syndrome can be found in both genders, with males being affected five times more often than females.  Mutations (change) in specific gene(s) hinder certain nerve cells in the brain from forming appropriately and reaching their designated position during brain development before birth. This in turn prevents them from performing their expected function once the baby is born. 

The first group of nerve cells affected is those specialized to process smells (known as olfactory neurons). The other nerves afflicted are the ones that produce a hormone called gonadotropin-releasing hormone (GnRH). GnRH is responsible for the production of several other hormones that play a central role in sexual development before birth and during puberty. Normal function of ovaries in females and testes in males are dependent on GnRH. Thus, signs of Kallmann syndrome may show up in infancy, adolescence or adulthood. They are usually noticeable around the early teenage years, when puberty may be delayed or absent, characteristically accompanied by loss or decreased sensation of smell. ​

Multiple associated abnormalities have been observed, such as cleft lip and cleft palate, absence of a kidney, hearing loss, bimanual synkinesis, irregular eye movements and issues with tooth development. 

Since Kallmann syndrome is linked to alterations in genes, it can be inherited from parents. However, it is not necessary that your elders were troubled by the disease; they may not have encountered any of the obvious complaints but simply carried the mutated gene in their body. Such people are called ‘silent carriers’. 

Consequences of Kallman syndrome in adult males could be infertility, erectile dysfunction, osteoporosis (decreased bone mass), hot flashes and difficulty concentrating. ​​

When to seek expert advice

Any of the listed symptoms should be a prompt to seek medical advice. Many people with Kallmann syndrome are not aware that they are unable to detect odours until the impairment is discovered through testing. Reach out to an expert at the Section of Endocrinology.