Laron Syndrome Case Study

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Laron syndrome is an autosomal recessive disease where patients are insensitive to growth hormone (GH) as a result of mutations in the GH receptor (GHR) gene. Suffers are short in stature, obese and have acromicria(Laron 2004). Additionally, these patients were shown to have high levels of serum GH accompanied by low levels of insulin-like growth factor-1 (IGF-1) and IGF-binding protein 3 (IGFBP-3). Patients do not respond to exogenous administration of (Iida et al. 1998). The GHR is located on chromosome 5 and consists of 10 exons. Exon 8 encodes the transmembrane domain of the receptor and there are two known exon 8 mutations. One of these mutations is a homozygous point mutation that precedes exon 8 whilst the other is a homozygous missense

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