Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.
Pallister-Hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations. This disorder is inherited as an autosomal dominant trait and is caused by mutations of the GLI3 gene encoding a zinc finger transcription factor. We describe a case of Pallister-Hall syndrome with growth hormone neurosecretory dysfunction, successfully treated with growth hormone until attainment of final height. We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone.
Department of Pediatrics, Tor Vergata University, Rome, Italy. spadoni@med.uniroma2,it
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C
Galasso
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Scirè
F
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Fabbri
G L
GL
Spadoni
C E
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Killoran
L G
LG
Biesecker
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B
Boscherini
D000015:Abnormalities, Multiple / Q000188:drug therapy*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D004268:DNA-Binding Proteins / Q000235:genetics; D006222:Hamartoma / Q000473:pathology; D019382:Human Growth Hormone / Q000378:metabolism / Q000627:therapeutic use*; D006801:Humans; D007027:Hypothalamic Diseases / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D051741:Kruppel-Like Transcription Factors; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins; D017689:Polydactyly; D012097:Repressor Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D029867:Xenopus Proteins; D000074290:Zinc Finger Protein Gli3; D016335:Zinc Fingers
D004268:DNA-Binding Proteins; C108003:GLI3 protein, Xenopus; C065683:GLI3 protein, human; C465571:Gli3 protein, mouse; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D012097:Repressor Proteins; D014157:Transcription Factors; D029867:Xenopus Proteins; D000074290:Zinc Finger Protein Gli3; D019382:Human Growth Hormone