Kallmann syndrome - diagnosis

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Uploaded by on Aug 22, 2009

Early diagnosis of Kallmann syndrome & hypogonadotrophic hypogonadism is not always easy, but early diagnosis helps to prevent later problems.

There is no simple blood test for KS & HH, it is more a case of eliminating other more common disorders.

Any delay of puberty by age of 15 should be fully investigated.

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  • what if KS was diagnose late? Let say at the age of  31, is it possible to be treated?

  • @ThePenguinProduction

    there are several causes of delayed puberty (hypogonadism). You need to go to an endocrinologist to get a full work up. There may be treatment(s) available, but they will be administered by your doctor.

  • Hey I am 17 years old (male) and dont have any armpit hair, dont have any facial hair, and no leg hair. I didnt get hair in the pubic region till I was 16 :(

    I always feel out of place because I am 5' 6" and only weigh 117 pounds. I always get mistaken for a 12 year old.

    If there anyway to speed up the process of puberty for me ?

    Thanks :D

  • An x-linked condition just means the gene defect is found in x-chromosome. Normally only men suffer from x-linked conditions & females are carriers.

    The classic x-linked conditions are haemophilia-A and red/green colour blindness.

    Less than 10% of KS and HH cases are x-linked at the present time.

    It has nothing to do with being intersex. They are totally different things.

    I quite accept that KS and HH can in a few cases be classed as intersex, but it is not for the majority of cases.

  • A chromsome can contain thousands of different genes. It is easy to detect if a whole chromosome is missing or added,

    It is far harder to detect a very small gene defect within a chromosome.

    So far defects in 8 genes have been identified that can cause KS or HH.

    These genes are located on the X chromosome and chromosome numbers 4, 8 & 19.

    If a KS causing gene is located on the Y chromosome, it has not been found yet and would make it a male only condition which is certainly not.

  • Sorry, but that statement is not correct.

    Y is a chromosome not a gene.

    XXY is Klinefelter syndrome.

    XYY is a syndrome with no serious symptoms.

    X and Y are chromosomes. Kallmann is caused by a defect in a gene that is located deep within a chromosome.

    There have been 8 genes so far identified that can cause KS / HH on 4 different chromosomes. There is no one common gene that is known to cause all KS / HH cases.

    Virtually all KS / HH cases will have the karotype XX or XY.

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