ESPE Abstracts

Background: Kabuki syndrome (KS; OMIM 147920) is a congenital anomaly/intellectual disability syndrome caused by a mutation in the KMT2D or KDM6A gene. Children with KS have a spectrum of clinical features, but one of the key features in KS patients is postnatal growth retardation. GH deficiency has been reported in some children with KS, but no structural research is done in this field.

Objective and hypotheses: We studied the growth hormone and IGF1 pattern in order to learn more about a possible mechanism involved in this postnatal growth retardation.

Method: Currently, we have assessed 15 KS children (age 3–10 years old, 6.44±2.29) with a known KMT2D or KDM6A mutation. Both clonidine (CLO) and arginine (ARG) tests were used to stimulate GH release. GH and IGF1 were measured according to international standard.

Results: Height was variable, with a mean height SDS of −2.38±1.41. GH deficiency was present in four of the 15 (26.67%) children. In addition, in two children the GH tests showed a tendency to GH resistance, although no one actually met the defined criteria.

Conclusion: Apparently GH deficiency is not the only cause for small height in KS patients. Further research is necessary to determine the underlying cause of growth retardation. Currently we are performing a clinical study with GH treatment in children with KS; the results are pending but promising.

Funding: This study is sponsored by Pfizer.