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.