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Brief report from Kallmann syndrome patient meeting in Boston. Nov. 2018.

November 25, 2018

Key points from 2018 Boston Meeting:

 95% of individuals will start puberty between the ages of 10 and 15.

99.8% of individuals will start puberty by the age of 16.


Kallmann syndrome / CHH is not delayed puberty.


Latest estimates of incidence are between 1 in 10,000 and 1 in 48,000 live births.


4 male cases to every 1 female case.


Now over 30 causative gene defects identified in KS / CHH cases, but these still only cover 50% of cases.


These causative genes can cause the extra non-reproductive symptoms that are seen in some, but certainly not all KS / CHH cases:


Mirror hand movements

Cleft palate / harelip

Fused fingers

Missing teeth



Missing one kidney


The mini-puberty from birth to 6 months can be used as a diagnostic tool but is more apparent in males than females.


In gonadotropin therapy, FSH only therapy should be applied for at least three months before any hCG therapy begins. This will allow for the maximum development of sperm-producing Sertoli cells within the testes.


Partial KS / CHH can occur in 5% of male cases where there is a very low sperm count, enough for un-aided conception but with testosterone levels too low to develop full secondary sexual characteristics and male pattern behaviour.


Younger females should be on oestrogen only therapy first to allow full development of secondary sexual characteristics before adding in progesterone. Progesterone can either be taken separately or through the use of the cyclical oral contraceptive. Progesterone is normally required to maintain a healthy uterine lining.


Andrew Dwyer and the endocrinology team at Massachusetts General Hospital have applied for a grant to fund the generation of a patient registry for Kallmann syndrome / CHH. The aim of this is to build a database of information that follows the health progress of patients with KS / CHH from diagnosis onwards. The hope is to build a picture of the requirements for patients in terms of treatment and psychological support after diagnosis. The grant will also help fund future patient meetings.

  1. Do partial KS/CHH patients have higher hormone levels than other KS/CHH patients?

    • Yes, the levels of gonadotropins, LH and FSH can vary in patients with Kallmann syndrome / CHH. In severe cases, the levels will be very low, practically zero. However, in milder cases, you can get low levels of LH and FSH will give a person a partial puberty development, low testosterone level and a very low level of sperm production.

      The FSH level is the key to sperm production. A slightly higher, but below normal, level of FSH can give rise to a testicle size of above 4ml. This is below normal adult sized but large enough for minimal sperm production. You can get some men with partial Kallmann syndrome who are can have children with no treatment at all.

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