Central precocious puberty in KBG syndrome with a pathogenic variant in ANKRD11

초록

https://www.sciencedirect.com/science/article/pii/S2949774425014207?via%3Dihub Treatment and Management: The patient began treatment with a GnRH agonist combined with growth hormone (GH) therapy. Outcome and Follow-Up: After 20 months of treatment, his height increased to 144.9 cm (-1.44 SDS), and his weight improved from -2.21 SDS to -0.66 SDS. Discussion: ANKRD11 plays a role in chromatin modulation and influences growth by upregulating P21, a known cell cycle inhibitor. Its specific role in pubertal development has not yet been determined. This case draws attention to the importance of thorough clinical examination and radiological assessment and exome sequencing. Conclusion: The role of ANKRD11 in regulating the pace of pubertal development requires further clarification in the future. It is necessary to analyze additional cases of KBG syndrome in the future to uncover the specific conditions associated with clinical symptoms of precocious puberty.