Growth Hormone Deficiency (GHD): A New Association in Peters' Plus Syndrome (PPS)

Kuk Wha Lee, Phillip D.K. Lee

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

We report a case of a girl with clinical features of Peters' Plus Syndrome (PPS) (association of anterior eye chamber defects; peculiar facies; cleft lip/palate; brachymelia; developmental delay; growth retardation) and documented growth hormone deficiency (height -3.5 SDS at chronological age 5 years 8 months; low growth factors; bone age delay; growth velocity 4.4 cm/year (<3rd centile); and peak growth hormone levels of 1.7 and 4.7 ng/ml by clonidine and insulin provocative testing, respectively). Treatment with recombinant human growth hormone (0.3 mg/kg/week) resulted in a dramatic increase in growth velocity, increasing the height from -3.5 to -1.5 SDS over 2.3 years of therapy, indicative of an excellent response. Growth retardation is a known association in PPS: a condition that includes other midline facial defects. This case supports a role for GHD in the pathogenesis of the short stature observed in these children; demonstrates the efficacy of GH treatment; and further reinforces the relationship of pituitary anomalies with common congenital defects.

Original languageEnglish (US)
Pages (from-to)388-391
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume124 A
Issue number4
DOIs
StatePublished - Feb 1 2004

Keywords

  • Growth hormone deficiency
  • Peters' plus syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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