KBG Syndrome: A Case Report and Longitudinal Assessment of Long‐Acting Recombinant Human Growth Hormone Therapy

Clinical Case Reports 2026 Open access

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Authors: Hui Nan, Pu Zhang, Jing Qian
DOI: 10.1002/ccr3.71744
Cited by: 1
References: 13

Abstract

the clinical data, molecular genetic testing results, and 20-month clinical data of long-acting recombinant human growth hormone (rhGH) treatment in a child with KBG syndrome (KBGS). The child exhibited a c.1591delG frameshift mutation in the ANKRD11 gene associated with KBGS, a variant not previously reported, thereby enriching the genetic mutation spectrum of KBGS. Following treatment with long-acting rhGH, the child showed significant improvement in height without adverse reactions.

Fields of Study & Subjects

Growth Hormone and Insulin-like Growth Factors Genomics and Rare Diseases Pituitary Gland Disorders and Treatments

Publication details

Journal / source
Clinical Case Reports
Publisher
Wiley
Volume
14
Issue
1
Pages
e71744–e71744
Publication date
1 January 2026
Language
EN