Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome

Chen Yang, Yi-Ru Chen, Chien-Cheng Lai, Hsiu Chen Lin, Geng Chang Yeh, Hsun-Hui Hsu

研究成果: 雜誌貢獻文章同行評審

7 引文 斯高帕斯(Scopus)

摘要

Three children of two Taiwanese families were diagnosed with Laron syndrome, two sisters and one boy. Both sets of parents were consanguineous. Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature, and central obesity. Biochemically, their levels of serum IGF-I were less than 5 μg/ml before and after an IGF-I generation test, and levels of IGFBP-3 were reduced in all three patients. Sequence analysis of the growth hormone receptor gene revealed that all three carried a homozygous missense D152G mutation in exon 6.
原文英語
頁(從 - 到)165-171
頁數7
期刊Journal of Pediatric Endocrinology and Metabolism
17
發行號2
出版狀態已發佈 - 2004

ASJC Scopus subject areas

  • 內分泌
  • 兒科、圍產兒和兒童健康

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