Phenotypic heterogeneity in familial isolated growth hormone deficiency type i-a

Marco A. Rivarola, John A. Phillips, Claude J. Migeon, Juan J. Heinrich, Brian J. Hjelle

Research output: Contribution to journalArticlepeer-review

Abstract

We studied an Argentinian family of Spanish ancestry in which the parents are of normal height and three of their four children have isolated GH deficiency type I-A. Restriction endonuclease analysis of DNA isolated from leukocytes was done using 32P-labeled human GH (hGH) cDNA sequences as a probe. The three siblings were homozygous, while their parents and the remaining sibling were heterozygous for a deletion of about 7.5 kilobases DNA, which included the normal hGH gene. The phenotype of the affected subjects differed in several respects. There was variation between the homozygotes in birth length and height before hGH treatment and growth responses during long term hGH treatment. Furthermore, heterozygotes in this family had normal height despite their diminished hGH responses to provocative tests.

Original languageEnglish (US)
Pages (from-to)34-40
Number of pages7
JournalJournal of Clinical Endocrinology and Metabolism
Volume59
Issue number1
DOIs
StatePublished - Jul 1984

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

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