ESPE Abstracts

I was diagnosed with Kallmann syndrome at the age of 23 in the 1990's. I was never seen by a paediatrician as a teenager, even though I had two additional "red flag" symptoms of anosmia and hearing loss in addition to my lack of puberty. I was seen as being a "late bloomer" and told to "wait and see". Even though the awareness of hypogonadotropic hypogonadism (HH) / Kallmann syndrome / Isolated GnRH deficiency has increased since my diagnosis it is still a condition where patients experience delayed diagnosis and treatment which can be seen as a hallmark of a rare disorder. Testosterone therapy is still the standard treatment of choice for male patients with HH, but there is still a variation in the age treatment is started and the treatment pattern. Patients or more often, parents of patients, are not always aware of possible treatment options at this early stage. Unless they are seen at large treatment centres with a special interest in abnormal puberty cases there may be no choice offered. Gonadotropin therapy, whether FSH / hCG, or even the GnRH pump can offer benefits to patients even though they may not be old enough yet to appreciate the benefits this type of treatment could offer. As an older patient I see a dual benefit for gonadotropin therapy over testosterone therapy in younger male patients. Firstly, there is the possibility to achieve more normal or natural looking puberty, in particular regarding testicular growth. This can help with body image issues and self-confidence in patients at a critical point in their social development. Secondly there is the possibility of increasing the chances of future fertility options especially if FSH pre-treatment is used in the more severe cases. Further study is required to assess the long-term benefits of gonadotropin therapy in younger patients, both in terms of fertility outcomes but also in terms of quality of life benefits to patients.

References:

Boehm, U., Bouloux, PM., Dattani, M. et al. European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 11, 547–564 (2015). https://doi.org/10.1038/nrendo.2015.112.

Alexander EC, Faruqi D, Farquhar R, Unadkat A, Ng Yin K, Hoskyns R, Varughese R, Howard SR. Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis. Eur J Endocrinol. 2024 Jan 3;190(1):S1-S11. doi: 10.1093/ejendo/lvad166. PMID: 38128110; PMCID: PMC10773669.