Central precocious puberty as the initial manifestation of multisystem involvement caused by de novo heterozygous KMT2B mutation and STS hemizygous deletion: a case report - Takeaways - MDSpire

Central precocious puberty as the initial manifestation of multisystem involvement caused by de novo heterozygous KMT2B mutation and STS hemizygous deletion: a case report

  • By

  • Yaqin Feng

  • Li Yang

  • Qing-Bo Xu

  • Lan-Fang Cao

  • June 17, 2026

  • 0 min

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  • 1

    Central precocious puberty can occur as the primary manifestation of KMT2B-related disorders, distinct from the typical dystonia presentation.

  • 2

    The patient exhibited a de novo heterozygous KMT2B mutation and a hemizygous STS deletion, leading to both precocious puberty and X-linked ichthyosis.

  • 3

    GnRH analogue therapy with leuprorelin acetate was successfully used to manage central precocious puberty in this patient.

  • 4

    Comprehensive endocrine assessment is essential for children with KMT2B-related disorders to ensure early diagnosis and timely intervention.

  • 5

    This case highlights the need for further research on the co-occurrence of KMT2B-related disorders and X-linked ichthyosis.

Original Source(s)

Central precocious puberty as the initial manifestation of multisystem involvement caused by de novo heterozygous KMT2B mutation and STS hemizygous deletion: a case report

  • by Yaqin Feng, Li Yang, Qing-Bo Xu, Lan-Fang Cao

  • June 17, 2026

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