Kallmann syndrome has existed under that name since 1944, when it was named in a medical paper by Franz-Josef Kallmann, a geneticist, working from work originally done nearly one hundred years earlier. In 1856, a Spanish doctor had posited there being a correlation between anosmia and hypogonadism. On the basis of these two papers, the 1950s saw further research, which indicated the complete or partial lack of an olfactory bulb in men who had hypogonadism.
Kallmann syndrome is a syndrome which is most noticeable through delayed\absent puberty, and a lack of sense of smell. This is shown by people not developing secondary sexual characteristics, and by infertility in affected individuals.
Kallmann syndrome means that the person who has developed it has either no sense of smell (no olfactory bulb), or a very limited sense of it (partial olfactory bulb). This is how physicians determine whether or not someone truly has Kallmann syndrome, as the other forms of hypogonadism do not present with loss of sense of smell. However, while this is the base, people who suffer from Kallmann syndrome often don’t know that they can’t smell until they go through tests.
While the most common symptom which shows the syndrome to be Kallmann syndrome is the lack of a sense of smell, other symptoms include lopsided kidneys (where only one develops), strange growths of finger and toe bones, cleft palates and lips, strange eye movements, lack of a sense of hearing, and abnormal teeth development. Additionally, some sufferers reported bimanual synkinesis. This makes it more likely that the hands will mirror one another, rather than moving independently – any tasks which require individual movements in the hands are therefore difficult.
Diagnosis of Kallmann syndrome is normally done when people come in for delayed puberty. Because this is the time when most people notice that something is wrong, it can make final diagnoses difficult, due to the different times and ages at which puberty takes place. This is particularly the case in women, as their most significant symptom is amenorrhoea, and the doctors in the case have to rule out other possibilities for that before they can come to Kallmann syndrome as a cause.
While most cases of Kallmann syndrome are diagnosed when the normal age for puberty has been reached, sometimes it is possible to diagnose (and therefore begin treatment for it) before a baby reaches six months old. If doctors keep an eye on the hormones which are normally present in a babies, then they can catch when the normal hormonal levels aren’t present. This lack of hormones can point to Kallmann syndrome. This is obviously something which does not happen very often, but it can be something to watch out for, if any of the symptoms mentioned above are seen to occur in quick succession to each other. It can be a useful indicator as to what to do next, rather than needing to wait.