This is an international collaboration assembling the largest cohort of CHH reversals to date.
2020-2022
We are applying latent class mixture modeling to identify predictors of reversal and relapse.
1) we validated use of online approaches for rare disease research;
2) we identified high rates of reversal in a subset of patients with the "fertile eunuch" variant (AKA: Pasqualinii syndrome - mansucript in preparation;
3) analysis for predictors is ongoing.
We first described reversal in a New England Journal of Medicine paper in 2007. Previously thought to be lifelong, reversal occurs in about 15-20% of patients; This is the first work to examine reversal in a large cohort of patients.