Poster Presentations

Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome

  • Gamze Çelmeli
  • Mesut Parlak
  • Banu Güzel Nur
  • Ercan Mihçi
  • Sema Akçurin
  • İffet Bircan

J Clin Res Pediatr Endocrinol 2017;9(1):7-7

The Kabuki make-up syndrome (KMS) is characterized by mental retardation, typical facial appearance, skeletal anomalies, joint laxity, and post-natal growth deficiency. There are limited publications on growth hormone therapy in KMS. Our aim is to present the response to growth hormone (GH) treatment in two KMS patients with GH deficiency in the first two years.

Case 1: A girl with KMS who started treatment for GH at 11.4 years old had a height of 128.6, 138.8, and 146.9 cm, a height SDS of -2.98, -2.6, and -2.01, a growth velocity of 3.2, 9.9, and 8.4 cm/year, and growth velocity SDS of -3.41, +4.14, and +3.13 at pretreatment, one-year, and two-year follow-up on treatment, respectively.

Case 2: The second case whose GH treatment was started at the age of 5.2 years had height of 94.8, 102.2, and 109.2 cm, height SDS of -3.31, -2.96, and -2.54, growth velocity of 4, 7.4, and 7 cm/year, and growth velocity SDS of -2.3, +1.6, and +1.09 at pretreatment, one-year, and two-year follow-up with treatment, respectively.
In our cases, a good response to GH treatment was obtained as in the few patients in the literature.

The post-natal growth retardation seen in 100% of patients with KMS can be accompanied by lack of GH.