[Exaggerated somatomedin activity in the Beckwith-Wiedemann syndrome (author's transl)].
Beckwith and Wiedemann described the syndrome of exomphalos, macroglossia and gigantism with hypoglycemia and visceral organ hyperplasias. In some cases of severe hypoglycemias hyperplasia of beta cells of the pancreas was found. Hyperinsulinism, which has to date rarely been investigated, reacts strongly to beta cell stimulation and can hardly be suppressed. The cause of gigantism and organ hyperplasias is still unknown. After a short description of a case of hypoglycemias in the first two weeks of life a long-term profile of the endocrinologic abnormalities and carbohydrate metabolism is given. Growth hormone response to insulin is normal, tolbutamide is followed by severe hypoglycemias without an increase in the immunoreactive insulin levels; the activity of somatomedin is excessively increased. The high activity of somatomedin explains the high potency of growth in the different tissues and the hypoglycemic reactions and it seems reasonable to assume that somatomedin could create nesidioblastosis of the pancreas with hyperinsulinism and severe hypoglycemias. It is likely that the Beckwith-Wiedemann syndrome and the Laron type familial dwarfism with high plasma growth hormone, absent activity of somatomedin, and disorders in carbohydrate metabolism represent complementary diseases.
D000015:Abnormalities, Multiple; D005877:Gigantism / Q000150:complications*; D005951:Glucose Tolerance Test; D006554:Hernia, Umbilical / Q000150:complications*; D006801:Humans; D007003:Hypoglycemia / Q000150:complications*; D007223:Infant; D007231:Infant, Newborn; D007328:Insulin / Q000097:blood; D008260:Macroglossia / Q000150:complications*; D008297:Male; D013002:Somatomedins / Q000378:metabolism*; D013577:Syndrome; D014044:Tolbutamide
D007328:Insulin; D013002:Somatomedins; D014044:Tolbutamide
Erhöhte Somatomedinaktivität beim Beckwith-Wiedemann-Syndrom.