Abstract:
:Defects in insulin receptor function have been associated with insulin resistant states such as obesity and type 2 diabetes mellitus. Several types of mutations in the insulin receptor gene have been identified in patients with genetic syndromes of extreme insulin resistance. We have studied a 10-year-old Japanese girl with type A insulin resistance with hirsutism and hyperinsulinemia but without the dysmorphic features characteristic of leprechaunism or Rabson-Mendenhall syndrome. Despite the presence of severe insulin resistance, the patient did not develop overt diabetes mellitus at the time of investigation. Using direct sequencing, we identified a nonsense mutation causing premature termination after amino acid 345 in the alpha subunit of the insulin receptor.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Hashiramoto M,Osawa H,Ando M,Murakami A,Nishimiya T,Nakano M,Nishida W,Onuma H,Makino Hdoi
10.1507/endocrj.52.499subject
Has Abstractpub_date
2005-08-01 00:00:00pages
499-504issue
4eissn
0918-8959issn
1348-4540pii
JST.JSTAGE/endocrj/52.499journal_volume
52pub_type
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