Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS).

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.
AuthorsKuk-Wha Lee, Phillip D K Lee
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 124A Issue 4 Pg. 388-91 (Feb 1 2004) ISSN: 1552-4825 [Print] United States
PMID14735587 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright 2003 Wiley-Liss, Inc.
Chemical References
  • Human Growth Hormone
  • Growth Hormone
  • Anterior Chamber (abnormalities)
  • Child, Preschool
  • Facies
  • Female
  • Growth Disorders (diagnosis, drug therapy)
  • Growth Hormone (therapeutic use)
  • Human Growth Hormone (deficiency)
  • Humans
  • Syndrome

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