Abstract:
:West, R. J., Lloyd, J. K., and Turner, W. M. L. (1975). Archives of Disease in Childhood, 50, 703. Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia. A syndrome comprising unusual facies, dry skin, acanthosis nigricans, thickened nails, hirsutism, dental precocity and dysplasia, abdominal protuberance, and phallic enlargement is described in 2 sibs. Both have developed diabetic ketoacidosis with insulin resistance. The elder child, a girl, had recurrent septic episodes and died at the age of 7-8 years. At necropsy the pineal gland was hyperplastic, weighing 900 mg. Investigation of the younger sib over a 4-year period has shown decreasing glucose tolerance, and he was frankly diabetic with ketoacidosis by the age of 6-8 years. Serum insulin concentrations have always been grossly raised. Though the mechanism for insulin resistance has not been definitely established, a functional abnormality of the hypothalamus or pituitary is postulated to explain the many endocrine features of the syndrome.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
West RJ,Lloyd JK,Turner WMdoi
10.1136/adc.50.9.703subject
Has Abstractpub_date
1975-09-01 00:00:00pages
703-8issue
9eissn
0003-9888issn
1468-2044journal_volume
50pub_type
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journal_title:Archives of disease in childhood
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doi:10.1136/adc.65.2.225
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doi:10.1136/adc.79.4.359
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journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1975-11-01 00:00:00
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更新日期:2005-09-01 00:00:00
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