524 DOMINANT INHERITANCE OF ISOLATED GROWTH HORMONE DEFICIENCY (IGHD) TRANSMITTED THROUGH AN INDIVIDUAL OF NORMAL STATURE

Abstract

Recessive and dominant inheritance of IGHD are associated with distinct phenotypes. Type I is more common, autosomal recessive, growth hormone (GH) responsive, and insulin sensitive with typical facies. Type II is autosomal dominant and insulin and GH resistant. Dominant father-child inheritance of a type I phenotype has, however, been suggested in three families, all with very short fathers.

Two pairs of brothers, first cousins, presented with IGHD in early childhood. The mother of one pair (KG height 147 cm) and her brother (RT height 176 cm), the father of the others, showed absent or grossly subnormal GH responses to L-Dopa and insulin hypoglycemia. Pituitary function was otherwise normal. Neither marriage was consanguinous and the spouses of KG and RT were unrelated. All 4 cousins responded remarkably well to GH therapy.

This pedigree is most consistent with dominant inheritance of IGHD type I in which variable expressivity is manifest by the normal stature of RT. The existence of autosomal dominant transmission of IGHD through individuals of normal stature may have implications for genetic counselling in familial short stature.

Supported by Grant RR-125, GCRC Branch, NIH.

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