Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?

Pediatr Endocrinol Rev. 2015 Sep;13(1):465-7.

Abstract

Type 1 Trichorhinophalangeal syndrome (TRPS) is characterized by typical facial and skeletal abnormalities. These patients frequently exhibit short stature; however, only one case with growth hormone (GH) deficiency can be found in the literature. Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C>T (p. Gln400X) and c.2086C>T (p. Arg696X). She has an additional GH deficiency. The patient is short in stature, with a growth velocity of 1.5 cm per year (SDS - 4.07), a bone age of 4.5 years, and she shows no response to the GH stimulation tests. According to a previous report of an identical case, catch-up growth will occur after beginning GH treatment. We believe that GH stimulation tests should be performed on patients with TRPS1 exhibiting a growth velocity below the normal range expected for their age and sex. If the result is subnormal, then GH therapy should be attempted.

Publication types

  • Case Reports

MeSH terms

  • Body Height
  • Child
  • Codon, Nonsense
  • DNA-Binding Proteins / genetics
  • Female
  • Fingers / abnormalities*
  • Growth Hormone / deficiency*
  • Growth Hormone / therapeutic use
  • Hair Diseases / blood
  • Hair Diseases / diagnosis*
  • Hair Diseases / genetics
  • Humans
  • Langer-Giedion Syndrome / blood
  • Langer-Giedion Syndrome / diagnosis*
  • Langer-Giedion Syndrome / genetics
  • Nose / abnormalities*
  • Recombinant Proteins / therapeutic use
  • Repressor Proteins
  • Transcription Factors / genetics

Substances

  • Codon, Nonsense
  • DNA-Binding Proteins
  • Recombinant Proteins
  • Repressor Proteins
  • TRPS1 protein, human
  • Transcription Factors
  • Growth Hormone

Supplementary concepts

  • Trichorhinophalangeal Syndrome, Type I