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Early blood test for Kallmann syndrome / CHH. From birth to 6 months of age only.

April 14, 2013

In both males and females there is a “miny puberty” which lasts from birth until 6 months of age. It is more apparent in males than females. In males it sets the body up ready for normal puberty to start at around 11 or 12 years of age.

In this short period of time from birth to six months of age there would be detectable levels of FSH and LH in the blood and detectable testosterone levels in males.

In males and females with Kallmann syndrome or CHH this miny puberty does not occur.

It works better in boys than girls but if there is a delectable level of FSH, LH, testosterone / oestrogen it would strongly suggest that it is not a case of KS / CHH.

The lack of detectable levels would not confirm a KS / CHH diagnosis but would be a big clue towards the correct diagnosis. Conversely if you do find the hormones present at that age it can be very reassuring that KS / CHH is not present.

If a blood test reveals no detectable levels of testosterone at 6 months of age and there has been either micro-penis or undescended testicles it would give doctors a very good indication that KS / CHH is a distinct possibility.

I have added here a one page link to a web site which also confirms the possibility of testing up to the age of 6 months.

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=174590

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4 Comments
  1. Mrs Carolyn green permalink

    Hi, my son has just been diagnosed with kallmans, however as a baby he was given beta HCG injections, he did produce testosterone at that stage, he had micropenis and undecended testes. I’m a little confused with your information and assertion that if testosterone is present as baby kallmans can be ruled out . Kind regards Carolyn green

    • Your son would have produced testosterone as as result of the hCG injection. This would have corrected the micro penis and helped the testes to descend into the scrotum.
      Normally boys under 6 months would produce their own natural testosterone for a short while.
      In KS this this absent so your doctors gave your son hCG to compensate for the missing testosterone.
      The hCG acts the same way as the pituitary hormone Leutinising hormone and makes the testes produce testosterone.

  2. Terri permalink

    My son is 19 and has been diagnosed with Kallmann’s. He was born with a micro-penis but no blood test was taken. He was put on hormones anyway so he could grow enough for a circumcision. Testicles were fine. When he was 12 he admitted a wet dream. That has never happened again and no other signs of puberty has happened. He smells just fine. Is he truly a Kallmann’s case? Is it possible that he can create his own testosterone if he is stimulated?

    • If your son can smell it will not be Kallmann syndrome, but could be congenital hypogonadotropic hypogonadism instead (CHH).

      If he has shown no signs of puberty by the age of 19 then CHH is a possibility, but he could still have delayed puberty but CHH would be more likely. He would need to be reviewed by an endocrinologist to check his testosterone levels as well as the level of the hormones LH and FSH. On the basis of these results the endocrinologist would be able to confirm if it is CHH.

      If the testes are in the correct position inside the scrotum they can be stimulated into producing testosterone, and perhaps sperm as well, with the appropriate treatment. However initial treatment will probably be with testosterone gel or injections to produce the changes normally seen at puberty. If he has CHH there will be no change in testicle size, if he has delayed puberty everything will develop as it should.

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