Clinical Presentation Of Ghad

Fetal growth is primarily driven by maternal and nutritional factors, rather than by GH action. Children with GHAD generally are born with normal appearances, birth weights only slightly below average, and birth lengths about one standard deviation below the normal mean (4). This may be related to the decreased GH receptor prevalence found in fetal tissues compared to the number found postnatally. It is likely that insulin and the insulinlike growth factors (IGFs) have a more major role than GH does in prenatal growth (5).

Sometimes, GHAD will first be suspected when there is severe neonatal hypoglycemia or other signs of hypopituitarism (hypothyroidism, small phallus in male babies, or neonatal hepatitis). During early childhood, children with GHAD are detected when they demonstrate short stature and subnormal rates of growth. Often these children will have proportionally small limbs, increased body fat, and a cherubic appearance.

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