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Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome
Hamilton N T Hui1, Louise A Metherell, K L Ng
1Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China. hhuihk@hotmail.com
Abstract:
Laron syndrome, growth hormone (GH) insensitivity syndrome, caused by a mutation of the GH receptor (GHR) gene, is extremely rare in the Chinese population. We report a Chinese girl diagnosed with Laron syndrome at age 1.9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR, not previously described, was identified at the donor splice site of intron 6.
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