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My initial Kallmann syndrome diagnosis.
There is one day in my life I wish I had more memory of, or at least understood the consequences of that day at the time.
The day I got my Kallmann Syndrome diagnosis in 1992.
I studied an endocrinology unit while at University for my biomedical science degreee and had tried to find more information on disorders of puberty, but this was pre internet days and you had to physically find information for yourself in real books.
I started work at a hospital in London as a biomedical scientist, working in a blood transfusion lab. I knew I had an endocrine condition so one day I went up to the endocrine department to find somebody to talk to. No appointment, just one lunch time, knocked on a door.
I wish I could remember the exact details but it involved me telling this endocrine doctor my situation. The first question he asked was "did I have a sense of smell ?".
23 years of age, no doctor had asked me that before. To be fair I perhaps had not thought of telling a doctor either since it was something I rarely thought about.
That doctor was Dr Richard Quinton. At the time senior registrar to Prof Pierre Bouloux. I just happened to start work in the one hospital in the UK that had two KS specialist doctors working there. Dr Quinton had done his MD thesis at Cambridge University on Kallmann syndrome.
This led on to the formal diagnosis and treatment and more importantly perhaps, meeting my first ever fellow patient (that I knew of at least).
I perhaps could not have been at better hospital to get diagnosed for a rare endocrine condition. Getting on to 30 years later I am still in contact with Dr Quinton.
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:
Testosterone or oestrogen / progesterone
LH
FSH
Prolactin
SHBG
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
