Isolated growth hormone deficiency

Volume 70 Number 3, part 2

Clinical entities

4. ISOLATED GROWTH HORMONE DEFICIENCY (sexual ateliotic dwarfism)

a)

"5

c~

41 years 4 feet, 7 inches

Short stature. Postnatal, onset during infancy. Males have a late adolescence Skin. Tends to be soft, wrinkled, and thickened Voice. High pitched and peculiar in tone Endocrine abnormalities. No rise in basal growth hormone levels (immunoassay) following insulin-induced hypoglycemia or arginine infusion. Increased fall in blood glucose and delayed return to normal following intravenous administration of insulin; however, spontaneous hypoglycemic episodes are rare Etiology. Autosomal recessive inheritance of isolated growth hormone deficiency Comment. The skin and voice changes are rather characteristic; however, documentation of the diagnosis is dependent upon demonstration of a lack of growth hormone response to stimulation in the absence of other pituitary hormone deficiency REFERENCES

Rimoin, D. L., Merimee, T. J., and MeKusick, V. A.: Isolated growth-hormone deficiency in man: A recessively inherited defect, Science. In press. Rimoin, D. L., Merimee, T. J., and McKusick, V. A.: Sexual ateliotic dwarfism: A recessively inherited isolated deficiency of human growth hormone, Tr. A. Am. Physicians. In press.

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