A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

@article{Shenker1993ACA,
  title={A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty},
  author={Andrew Shenker and Louisa Laue and Shinji Kosugi and John J. Merendino and Takashi Minegishi and Gordon B. Cutler},
  journal={Nature},
  year={1993},
  volume={365},
  pages={652-654}
}

• Andrew Shenker, Louisa Laue, +3 authors Gordon B. Cutler
• Published 1993 in Nature
• DOI:10.1038/365652a0

FAMILIAL male precocious puberty (FMPP) is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern1–5. Affected males generally exhibit signs of puberty by age 4. Testosterone production and Ley dig cell hyper-plasia occur in the context of prepubertal levels of luteinizing hormone (LH)3–5. The LH receptor is a member of the family of G-protein-coupled receptors6,7, and we hypothesized that FMPP might be due to a mutant receptor that is activated in… CONTINUE READING

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