Case Report: rapid progressive puberty in siblings with MC4R p. Arg165Gln: longitudinal follow-up and gonadotropin-releasing hormone agonist treatment - Takeaways - MDSpire

Case Report: rapid progressive puberty in siblings with MC4R p. Arg165Gln: longitudinal follow-up and gonadotropin-releasing hormone agonist treatment

  • By

  • Hui Huang

  • Yu Yang

  • Xiangyu Xiong

  • Dongguang Zhang

  • Li Yang

  • Liling Xie

  • May 1, 2026

  • 0 min

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  • 1

    Two siblings with a pathogenic MC4R mutation exhibited severe early-onset obesity and rapidly advancing puberty.

  • 2

    GnRH agonist therapy effectively stabilized pubertal development in both siblings until spontaneous puberty resumed.

  • 3

    The proband experienced menarche at 13 years and 6 months after initial treatment for accelerated puberty.

  • 4

    Metabolic assessments revealed impaired glucose tolerance and insulin resistance, which improved with lifestyle changes and metformin.

  • 5

    This case highlights the need for prompt identification and management of rapidly advancing puberty in pediatric obesity.

Original Source(s)

Case Report: rapid progressive puberty in siblings with MC4R p. Arg165Gln: longitudinal follow-up and gonadotropin-releasing hormone agonist treatment

  • by Hui Huang, Yu Yang, Xiangyu Xiong, Dongguang Zhang, Li Yang, Liling Xie

  • May 1, 2026

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