Growth failure and pituitary function in CHARGE and VATER associations

Growth failure and anterior pituitary dysfunction are clinical features of the CHARGE and VATER associations. This study investigated pituitary dysfun ction as a potential cause of poor growth in a series of four and three pat ients with the CHARGE and VATER associations, respectively, who had height standard deviation scores (SDS) less than -2. Five of the seven patients ha d associated subnormal growth velocity SDS. Patients were investigated with a combination of dynamic and basal endocrine tests. All patients were foun d to be normonatraemic and to have normal basal thyrotroph and stimulated c orticotroph function. The one peripubertal patient had evidence of biochemi cal gonadotroph dysfunction. Although two patients had marginally low stimu lated serum growth hormone responses to glucagon stimulation testing, this was associated with either normal growth velocity or normal serum insulin-l ike growth factor binding protein 3 (IGFBP-3) concentrations. Thus, somatot roph dysfunction could not be demonstrated unequivocally in any patient. Po or childhood linear growth in the CHARGE and VATER associations does not ap pear to be associated with pituitary dysfunction.