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How do I know if I have Kallmann Syndrome?

What signs or symptoms may make you suspect you may have Kallmann Syndrome. People who have experience in Kallmann Syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Kallmann Syndrome?

How do I know if I have Kallmann Syndrome?



Kallmann Syndrome is a rare genetic disorder that affects the development of the hypothalamus, a part of the brain responsible for regulating hormones. It primarily affects the production of sex hormones and the sense of smell. If you suspect you may have Kallmann Syndrome, there are several signs and symptoms to look out for.



Delayed or absent puberty: One of the key indicators of Kallmann Syndrome is a delay or absence of puberty. This means that individuals with the condition may not experience the normal physical changes associated with puberty, such as breast development in females or testicular growth in males. This delay can be noticed during adolescence.



Impaired sense of smell: Another prominent feature of Kallmann Syndrome is a reduced or absent sense of smell, known as anosmia. This olfactory impairment is often present from birth and can be a significant clue in diagnosing the condition. If you have difficulty detecting smells or cannot smell certain odors, it may be worth investigating further.



Infertility: Due to the hormonal imbalances caused by Kallmann Syndrome, individuals with the condition often experience infertility. This means they may have difficulty conceiving naturally. If you have been trying to conceive without success, it could be a sign to consult a healthcare professional.



Family history: Kallmann Syndrome is a genetic disorder, so having a family history of the condition can increase the likelihood of being affected. If you know that other family members have been diagnosed with Kallmann Syndrome, it is important to discuss this with your doctor.



Additional symptoms: While delayed puberty, impaired sense of smell, and infertility are the primary signs of Kallmann Syndrome, there may be other associated symptoms. These can include abnormal facial features, such as a cleft lip or palate, hearing loss, or renal abnormalities. If you have any of these additional symptoms, it is important to mention them to your healthcare provider.



If you suspect you may have Kallmann Syndrome based on the aforementioned signs and symptoms, it is crucial to consult a healthcare professional for a proper diagnosis. They will conduct a thorough evaluation, which may include a physical examination, hormone testing, genetic testing, and imaging studies. Only a qualified medical professional can confirm whether you have Kallmann Syndrome or another condition with similar symptoms.


Diseasemaps
4 answers
If you are considered a late bloomer, you did not have reached puberty as your peers, you should go see your doctor and ask him for testosteron blood test. Especially if you can't smell.

Posted Jun 11, 2017 by Remo 2050
Anosmia, lack of sense of smell.

Not starting puberty by the age of 16 in girls and 17 in boys or not completing puberty within 5 years of starting.

Puberty is started with testicular growth in boys or menstrual bleeding in girls.

Low levels of testosterone or oestrogen and low levels of the pituitary hormones LH and FSH.

There are some associated symptoms that can occur in some cases, but not all cases of Kallmann syndrome:

Hearing problems
Mirror movements of the hands
Fused fingers
Cleft lip / palate
Missing teeth
Missing kidney
Skeletal problems such as scoliosis.
Undescended testicles.

Posted Nov 30, 2017 by Neil Smith 4395
A person will frequently seek treatment when they are passed the age of puberty and have not experienced any pubescent development. A doctor will run tests, that include an exam, an e-ray of the hands, a CT scan, and blood tests.

Posted Dec 5, 2017 by Aaron Davis 4150

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