A Case of Familial Male-Limited Precocious Puberty with a Novel Mutation

    August 2020 in “ JCRPE ”
    Shilpa Gurnurkar, Emily DiLillo, Mauri Carakushansky
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    TLDR A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
    This document discusses a case of Familial male-limited precocious puberty (FMPP), a rare condition caused by a mutation in the LHCGR gene that leads to early puberty in males due to excessive testosterone production. The patient, a boy with FMPP, exhibited a novel mutation in the LHCGR gene and has shown positive responses to treatment with bicalutamide and anastrozole, which aim to reduce testosterone effects and prevent early bone maturation to preserve adult height potential. The document highlights the rarity of the disorder and the promising nature of the treatment, despite limited knowledge on long-term outcomes.
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