Ninety-nine pregnant women with insulin-dependent diabetes mellitus, 8
3 women with gestational diabetes, and a control sample of 315 nondiab
etic consecutive puerperae have been studied along with their newborn
infants. Neonatal macrosomia is less frequent among diabetic mothers w
ith phosphoglucomutase (PGM1) genotype PGM11/*2 than among mothers wi
th other PGM1 genotypes. In gestational diabetes the association is mo
re evident among younger women than among older women. Diabetic women
with the PGM11/*2 genotype show a reduced proportion of heterozygous
PGM11/*2 offspring. The phenomenon is much more evident among women u
nder 28 years of age and does not depend on the quality of metabolic c
ontrol. The data suggest that when both mother and fetus share the PGM
11/*2 genotype, the deleterious effects of a diabetic environment on
fetal development are more severe, leading to an early loss of zygotes
. This may contribute to a decreased incidence of macromosomia among l
ive-born infants delivered by PGM11/*2 mothers.