title: Growth hormone receptor deficiency (Laron syndrome) in black African siblings.
abstract: Non-Caucasians with growth hormone receptor (GHR) deficiency/Laron syndrome among the approximately 180 recognised cases are rare, and include a Japanese and 3 African Americans. Black African siblings, a brother and a sister seen initially at 11 years 9 months and 5 years 6 months of age respectively were -7,4 and -8,0 on the standard deviation score for height. They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH levels and low levels of insulin-like growth factor (IGF)-I, IGF-II, insulin-like growth factor-binding protein 3 (IGFBP-3), and GH-binding protein (the solubilised extracellular domain of the GH cell surface receptor). Molecular genetic studies revealed a dinucleotide deletion in both siblings on exon 7 of the GHR gene, a mutation not found in any other GHR-deficient patient studied, including the North Americans of African origin. Since African Americans have a substantial admixture of Caucasian genes, it is of interest to document the presence of this condition in siblings from Africa.
authors.affiliation: Department of Paediatrics, University of the Witwatersrand, Johannesburg.
authors.forename: M
authors.initials: M
authors.lastname: Hopp
authors.forename: A L
authors.initials: AL
authors.lastname: Rosenbloom
authors.forename: J
authors.initials: J
authors.lastname: Griffiths
authors.forename: S
authors.initials: S
authors.lastname: Kgwete
authors.forename: M A
authors.initials: MA
authors.lastname: Vaccarello
mesh_terms: D000293:Adolescent; D044383:Black People / Q000235:genetics; D002648:Child; D004392:Dwarfism / Q000097:blood / Q000208:ethnology* / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D018969:Insulin-Like Growth Factor Binding Proteins / Q000097:blood / Q000172:deficiency; D007334:Insulin-Like Growth Factor I / Q000172:deficiency; D007335:Insulin-Like Growth Factor II / Q000172:deficiency; D008297:Male; D011863:Radioimmunoassay; D011986:Receptors, Somatotropin / Q000172:deficiency* / Q000235:genetics; D013019:South Africa; D013577:Syndrome; D001741:Black or African American
chemical_list: D018969:Insulin-Like Growth Factor Binding Proteins; D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I; D007335:Insulin-Like Growth Factor II