This study by Dzemaili et al. of quality of life in women with congenital hypogonadotropic hypogonadism (CHH) is striking for a number of reasons. These include the delays reported in diagnosis and access to specialist care, the long gaps in treatment experienced by more than half of patients, the variability found in availability of genetic testing and the low rate of discussion of CHH’s psychological impact.

Just 25% of patients felt that their healthcare provider understood how patients felt when living with CHH, and 27% were offered referral to psychological services. Additionally, only 36% were offered fertility treatment. Of these, 80% were able to conceive, so it appears that many women were not offered fertility treatment, which has a good success rate in this patient group.

When asked what patients found challenging about living with CHH, three groups of replies identified isolation and insecurity, a need for information and support, and delays in diagnosis/finding expert care. We should perhaps reflect upon whether we offer patients what they want when we see them in clinic for the surveillance of long term conditions. If we were better at this, perhaps there would be smaller periods of time when patients were not taking their hormone replacement.

Another interesting aspect was the authors’ use of community partnerships and social media to recruit patients. CHH is a rare condition, and these methods reached a larger cohort than might have been possible otherwise. It shows we can be imaginative in the way we collect qualitative data, and also that we can make more use of web-based platforms to share patient information and aid self-management.

Read the full article in Endocrine Connections 6 404–412