BACKGROUND: Kabuki syndrome is characterized by distinctive facial features and 
varying degrees of growth retardation. It leads to malformations in skeletal, 
urogenital and cardiac structures; moreover, endocrine conditions such as 
premature thelarche, precocious puberty, growth hormone deficiency, diabetes 
insipidus, thyroid dysfunction and obesity have been reported. Kabuki syndrome 
is caused by a heterozygous mutation in the KMT2D or KDM6A genes.
CASE PRESENTATION: An 11-year-old girl with the typical facial features of 
Kabuki syndrome visited our hospital due to her short stature. She was found to 
have the de novo heterozygous mutation of c.8200C > T, p(Arg2734*) in exon 32 of 
the KMT2D gene and was diagnosed with Kabuki syndrome. The patient also 
exhibited endocrine abnormalities such as a constitutional delay of puberty, 
transiently congenial hypothyroidism, obesity and growth hormone deficiency.
CONCLUSIONS: This is a case of a mutation in the KMT2D gene in a girl with 
Kabuki syndrome who presented with endocrine symptoms (constitutional delay of 
puberty, hypothyroidism, obesity and growth hormone deficiency).