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We present a highly inbred Bedouin kindred of 4 families containing 7 males and 6 females with isolated growth hormone deficiency (IGHD). Patients have normal height parents, exhibit extreme
short stature (Hts - 4 to -5 SDS), absent to low responses to GH stimulation tests, no response to GHRH stimulation and tow levels of IGF-binding proteins. They responded well to GH therapy
and did not develop antibodies to GH. We used a two stage PCR strategy to study GH-1 genes in two of the families. Amplification of a 2.2 kb GH-1 gene fragment from each specimen excluded
IGHD IA (GH-1 gene deletion). The second round of PCR amplified 500 bp of GH-1 promoter sequence for SSCP analysis, a technique which detects single base differences. Polymorphisms disclosed
by Hin ell digestion of the 2.2 kb product and by SSCP analysis of the 500 bp product were informative. Affected individuals displayed three different GH-1 haplotypes. This eliminated the
possibility that their IGHD is caused by inheritance of a mutation in or near the GH-1 gene. This kindred provides an excellent example of IGHD IB with homozygosity by descent and
illustrates the need to identify and examine other candidate genes that contribute to GH synthesis and/or secretion.
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