Diagnosis

There is no one, single blood or genetic test that can lead to a diagnosis of HH or Kallmann syndrome.

Doctors will run a series of blood tests, medical imaging tests, and physical exams to help them reach a diagnosis by excluding other more common conditions that can cause similar symptoms.

Genetic testing can be used in some cases but due to the complex genetics of HH and Kallmann Syndrome, it is not always possible to get a clear-cut result.

Tests can include:

Blood tests:

• Testosterone
• Oestrogen
• SHBG
• Prolactin
• LH 
• FSH
• Vitamin D
• Karyotype – sometimes called cytogenetic testing, to rule out certain other conditions.

Imaging tests:

• X-ray of the wrist to determine bone age.
• MRI of the brain to show the area around the hypothalamus the pituitary gland.
• DXA / bone density scan.

Physical tests:

• Physical examination to determine puberty stage or Tanner stage.
• Smell identification test
• Reflex test of hands