Growth failure and pituitary function in CHARGE and VATER associations

Abstract

Growth failure and anterior pituitary dysfunction are clinical features of the CHARGE and VATER associations. This study investigated pituitary dysfunction as a potential cause of poor growth in a series of four and three patients with the CHARGE and VATER associations, respectively, who had eight standard deviation scores (SDS) less than -2. Five of the seven patients had associated subnormal growth velocity SDS. Patients were investigated with a combination of dynamic and basal endocrine tests. All patients were found to be normonatraemic and to have normal basal thyrotroph and stimulated corticotroph function. The one peripubertal patient had evidence of biochemical gonadotroph dysfunction. Although two patients had marginally low stimulated serum growth hormone responses to glucagon stimulation testing, this was associated with either normal growth velocity or normal serum insulin-like growth factor binding protein 3 (IGFBP-3) concentrations. Thus, somatotroph dysfunction could not be demonstrated unequivocally in any patient. Poor childhood linear growth in the CHARGE and VATER associations does not appear to be associated with pituitary dysfunction.