Diagnostic Tests for Kallmann's Syndrome and Hypogonadotrophic Hypogonadism
Blood tests:
There are a range of possible tests and procedures doctors can order in order to diagnose Kallmann's Syndrome or HH.
Since both the hypothalamus and pituitary glands are multi function organs a lot of these tests are required to rule out a wide range of other possible causes of delayed or absent puberty.
There are many causes of hypogonadism and it might involve a number of specialised tests to discover the true reason.
One of the first tests a doctor will order is to measure the level of specific hormones in the blood.
Testosterone and Oestrogen / Progesterone
Luteinising Hormone (LH)
Follicle Stimulating Hormone (FSH)
| Testosterone or Oestrogen | Luteinising Hormone (LH) | Follicle Stimulating Hormone (FSH) | |
| Kallmann's Syndrome or HH | Low | Low | Low |
| Klinefelter's Syndrome | Low | Raised | Raised |
| Primary Hypogonadism | Low | Raised / Normal | Raised / Normal |
Usually LH and FSH work in combination with each other. However there are some very rare conditions
in which there is a deficiency in only one of them, which can in turn lead to HH conditions. Doctors will usually
test the whole range of pituitary hormones in order to help the reach a diagnosis.
Kallmann's and HH are specific gonadotrophic deficiencies, there are other conditions that lead to other pituitary hormones being affected and other possibilities must be excluded before a diagnosis of Kallmann's or HH can be reached.
Testosterone is sometimes called a pro-hormone. It is broken down in the body into 2 separate products. Sometimes a doctor will order extra tests to see if there is a problem with the break down of testosterone in the body.
17-ß-oestradiol
Dihydrotestosterone (DHT)
Each of these two products of the break down of testosterone has its own affect within the body. Sometimes they work alone, sometimes they work in conjunction with each other.
An addition test a doctor may order is to test the level of SHBG, this is sex hormone binding globulin, and is required to transport testosterone around the body.
Other factors may also be measured to rule out the possibility of another diagnosis.
Ferritin is an acute phase protein which can be raised in a number of conditions. A high level may indicate haemochromatosis, which sometimes leads to acquired HH in later life.
Other pituitary hormones may be measured to rule out any problem with other functions of the pituitary gland, such as the thyroid hormones, ACTH or prolactin.