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USA Kallmann syndrome patient meeting 2013. Notes taken. Part 2.

October 31, 2013

USA Patient Meeting 2013. Notes taken. Part 2.


Growth spurt.

The growth spurt seen in late puberty in both males and females is controlled primarily by testosterone and oestrogen levels under the influence of growth hormone. Normally height will increase until the pre-determined height is reached and then the end plates of the long bones fuse & harden preventing any further growth.

In KS / CHH where there is a lack of testosterone & oestrogen no growth spurt occurs but instead there is a linear height increase under the influence of growth hormone. This can lead to patients with KS / CHH being of above average height unless they start hormone treatment at the appropriate time.

The lack of oestrogen or oestrogen in KS / CHH patients can lead to early onset osteoporosis which should be checked for by the use of DEXA / bone density scan.

No puberty v partial puberty.

In patients with KS / CHH it is estimated that 60% of cases will show no pubertal development at all while the remaining 40% will show partial pubertal development.

Use of hCG in males.

hCG is human chorionic gonadotropin, it is normally derived from human placentas and has the same activity as luteinising hormone (LH). In males hCG can be given instead of testosterone preparations in order for the testes to produce their own testosterone. Pregnyl is a common trade name for hCG.

hCG acts on the Leydig cells in the testes in the same way as LH, with the production of testosterone. Normal levels of testosterone can be achieved within two months of starting treatment. Injections are given sub-cutaneously and the dose and frequency given is dependent on the testosterone levels achieved.

There is normally no increase in size in the testes when on hCG injections.

There was a bit of debate at the meeting about the possibility of achieving sperm production while on hCG alone. It is certainly possible for some patients with KS / CHH to achieve a low level of sperm production while on hCG injections alone but normally this tends to be the patients who have had some form of gonadotropin treatment in the past or who have partial testicular development already.

Patients with KS / CHH can sometimes achieving fertility with sperm counts a lot lower than those seen in other men. The theory is that fertility is based on the quality of sperm produced and not just the number produced.

There is no evidence of any long term adverse risk in males using hCG injections.

Use of FSH injections in fertility treatments in males.

Follicle stimulation hormone (FSH) acts on the Sertoli cells in the testes in order to induce sperm production. It is the increase in the Sertoli cells that gives the testes their size. Normally testes need to be 4ml or bigger in order to produce enough sperm for natural conception.

In most males, but not all, with KS / CHH FSH type medication is required to induce fertility. It is thought that giving FSH on its own for a few months before the addition of hCG increases the chances of sperm production and can speed up production.

In the past hCG has been given on its own first but new evidence suggests that pre-treatment with FSH can be more effective.

FSH can be given in its pure form or combined with LH in the form of human menopausal gonadotropin (hMG or menotropin).

FSH and hMG injections are expensive and not always easy to get hold of but can provide an effective form of fertility treatment for me along with the psychological benefit of testicular development.






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