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.
Lee
Kuk-Wha
KW
Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California-Los Angeles, 10833 Le Conte Avenue, MDCC 22-315, Los Angeles, CA 90095-1752, USA. kukwhalee@mednet.ucla.edu
Lee
Phillip D K
PD
D000867:Anterior Chamber / Q000002:abnormalities*; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000188:drug therapy; D013006:Growth Hormone / Q000627:therapeutic use; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D013577:Syndrome
D019382:Human Growth Hormone; D013006:Growth Hormone