Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

: Laitinen EM, Tommiska J, Sane T, Vaaralahti K, Toppari J, Raivio T

Publisher: PUBLIC LIBRARY SCIENCE

: 2012

: PLoS ONE

: PLOS ONE

: ARTN e39450

: 6

: 7

: 6

: 1932-6203

DOI: https://doi.org/10.1371/journal.pone.0039450

Conclusions: Considerable proportion of patients with HH (8% of KS probands) may recover in early adulthood. Spontaneous testicular enlargement during TRT was highly suggestive for reversal of HH. Those with the GNRHR mutation R262Q accompanied by another GNRHR mutation may be prone to reversal, although even patients with a truncating mutation in CHD7 or a splice-site mutation in FGFR1 can recover. We recommend that all adolescents and young adults with congenital HH should be informed on the possibility of reversal.