How is Kallmann syndrome / CHH diagnosed ?

There is no gold standard single test for Kallmann syndrome / congenital hypogonadotropic hypogonadism (CHH).

Diagnosis is often made by excluding other possible conditions that could affect puberty or fertility

Standard blood tests would include:

1. Testosterone or oestrogen / progesterone

2. LH

3. FSH

4. Prolactin

5. SHBG

6. Vitamin D

Other tests could include:

MRI to examine the size and structure of the pituitary gland and check to see if olfactory bulb is present.

Smell identication test.

Wrist x-ray to determine bone age.

DEXA / DXA bone density scan.

Hearing test.

Neurological exam to check reflexes.

Genetic testing may be undertaken whch can help in some cases, especially if there is a family history of the condition but not all cases of Kallmann syndrome / CHH can be identified through genetics.

What are the major symptoms of Kallmann syndrome ?

The defining symptom of Kallmann syndrome is a lack of sense of smell (anosmia) or a reduced sense of smell.

The condition can also occur with a normal sense of smell when the condition is called hypogonadotropic hypogonadism (HH).

There are other additional symptoms that may or may not occur. Kallmann syndrome or HH show a range of symptoms and patients may not experience any of them or only one them.

Possible additional symptoms:

• Hearing loss

• Cleft lip / palate

• Fused fingers / toes

• Missing teeth

• Curvature of the back (scoliosis)

• Mirror movements of the hands

• Missing kidney

No GnRH......no puberty......

If GnRH is not released correctly by the hypothalamus, located deep within the brain the pituitary, located close by is not able to release the hormones LH and FSH.

No LH and FSH means that the testicles can not grow and produce testosterone and sperm.

No LH and FSH means that the ovaries can not produce oestrogen & progesterone or allow eggs to mature and be released.

So no GnRH means no reproductive hormones and infertility.

If GnRH production is affected early in life it means that puberty does not occur either.

What is supposed to happen at puberty......

Kallmann syndrome is a known as a secondary hypogonadism condition.

This means the problem is with not with the testicles / ovaries themseleves but with the production of the hormones that should have been released at puberty.

One key hormone called GnRH.

GnRH is not released correctly at the time puberty is due.

In turn this prevents the pituitary gland from releasing two hormones called FSH and LH, collectively called gonadotropins.

Without these gonadotropins the ovaries and testicles remain dormant, puberty does not start or fully complete and no reproductive cycle is possible.

I was called a late bloomer even at the age of 23.

I was diagnosed at the age of 23 with Kallmann syndrome after years of being called a “late bloomer”

I had two of the additional symptoms that can be present with the condition, poor hearing and no sense of smell but no doctor I saw as a teenager linked them to my lack of puberty and just said I was a late bloomer and should just “wait and see”.

Kallmann syndrome - what is it ?

Kallmann syndrome is a rare genetic hormonal condition that prevents puberty from starting or fully completing.

It is a form of a condition called hypogonadotropic hypogonadism (HH)

Since I have no sense of smell the condition is called Kallmann syndrome rather than HH, but they are basically the same condition. Kallmann syndrome is just a form of HH.