Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

doi:10.1002/ajmg.a.64168

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Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

American journal of medical genetics. Part A - 1 Dec 2025

Aukema Sietse M, Vandenput Kim, Scarano Emanuela, Goel Himanshu, Guo Lily, Vanneste Michiel, Devriendt Koen, Zwaveling-Soonawala Nitash, Kiewert Cordula, Kuechler Alma, Parenti Ilaria, Orlandini Eleonora, de Boer Elke, Banka Siddharth, Wall Elizabeth, Lyon Gholson J, Low Karen J, Geelen Joyce M, van der Zwan Yvonne G, Ockeloen Charlotte W

Abstract excerpt

KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader-Willi and Turner syndrome. Limited evidence suggests benefits for some patients with KBG syndrome, but systematic...

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PMID: 40673726
DOI: 10.1002/ajmg.a.64168

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