9. Can you have Kallmann syndrome and a normal sense of smell ?

Anosmia, or a lack of sense of smell is a defining feature of Kallmann syndrome meaning that every patient with Kallmann syndrome will have anosmia, either complete or partial.

Another name for Kallmann syndrome is hypogonadotropic hypogonadism with anosmia. There are a number of different forms of hypogonadotrophic hypogonadism (HH) and Kallmann syndrome makes up about 50% of cases, but it is the only form associated with anosmia.

The terms congenital or idiopathic are sometimes used in front of the words hypogonadotropic hypogonadism and written as either CHH or IHH. The term congenital means present from birth. The term idiopathic means of unknown cause. Since HH is known to be of genetic origin the term IHH is not strictly correct but is often still used to describe the condition.

The term Kallmann syndrome is normally reserved only for patients with no sense of smell (anosmia) or a marked reduction in the sense of smell (hyposmia). 

Apart from the anosmia there is no functional difference in the diagnosis and treatment between Kallmann syndrome and other forms of CHH. 

 

The term hypogonadotropic hypogonadism is a good description of the condition and how it is caused.

The prefix hypo- is derived from the Greek word "hupo", meaning "a deficiency or lack of".

Hypogonadism means a deficiency in the function of the gonads, primarily a deficiency in the production of testosterone or oestrogen / progesterone and also a reduction or deficiency in sperm production or egg release by the testes or ovaries.

Hypogonadotropic means a deficiency in the production of the gonadotropins. These are the hormones normally produced by the pituitary that act on the gonads but are missing in Kallmann syndrome and CHH.

So overall the term hypogonadotropic hypogonadism means: 

A reduction in the function of the gonads (testes or ovaries) due to a deficiency in the production of LH and FSH by the pituitary gland which results in low levels of circulating testosterone or oestrogen / progesterone and probable infertility.