Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency

Minerva Pediatr. 2000 Jan-Feb;52(1-2):47-53.
[Article in English, Italian]

Abstract

The Kabuki syndrome is characterized by mental retardation (mild-to-moderate), skeletal anomalies, typical facial appearance and post-natal growth deficiency. The authors describe two patients with Kabuki syndrome and proven growth hormone deficiency. The first patient has been on GH replacement therapy for 4 years; the second for 11 years. On the basis of a sufficiently long follow-up period the Authors discuss the advisability of replacement therapy with growth hormone in patients with Kabuki syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Child
  • Diagnosis, Differential
  • Face / abnormalities
  • Human Growth Hormone / deficiency*
  • Humans
  • Intellectual Disability / diagnosis
  • Male
  • Muscle Hypotonia / diagnosis
  • Pituitary Gland / physiopathology
  • Syndrome

Substances

  • Human Growth Hormone