Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia.

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 Child

authors

West RJ,Lloyd JK,Turner WM

doi

10.1136/adc.50.9.703

subject

Has Abstract

pub_date

1975-09-01 00:00:00

pages

703-8

issue

9

eissn

0003-9888

issn

1468-2044

journal_volume

50

pub_type

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