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

## TL;DR

A child with KBG syndrome showed significant height improvement after 20 months of long-acting growth hormone therapy without adverse effects.

## Contribution

A novel ANKRD11 gene mutation in KBG syndrome is reported, expanding the genetic spectrum of the condition.

## Key findings

- A novel c.1591delG frameshift mutation in the ANKRD11 gene was identified in a KBG syndrome patient.
- Long-acting rhGH therapy improved the child's height over 20 months without adverse reactions.

## Abstract

This case analysis examines 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.

This report details a KBG syndrome male child (with novel ANKRD11 c.1591delG mutation) who had short stature. 20‐month rhGH therapy effectively improved his height without adverse reactions, supporting rhGH‘s efficacy/safety for such cases.

This report details a KBG syndrome male child (with novel ANKRD11 c.1591delG mutation) who had short stature. 20‐month rhGH therapy effectively improved his height without adverse reactions, supporting rhGH‘s efficacy/safety for such cases.