Growth hormone deficiency in two siblings with Alstrom syndrome
C. A. Alter and T. Moshang Jr
Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine 19104-4399.
OBJECTIVE--To investigate if there is an endocrinologic explanation for the
short stature in patients with Alstrom syndrome. DESIGN--Patient reports.
SETTING--The Children's Hospital of Philadelphia, Pa. PARTICIPANTS--Two
siblings with Alstrom syndrome who were referred to the Endocrine Division
for evaluation of obesity, growth, and glucose metabolism.
INTERVENTIONS--None. MEASUREMENTS/MAIN RESULTS--The low growth velocity in
both patients prompted growth hormone evaluation. The abnormal results of
two provocative tests of growth hormone function, as well as low
concentrations in frequent overnight sampling of serum growth hormone, were
compatible with growth hormone deficiency. However, the patients had
advanced bone ages, early normal growth, and normal insulinlike growth
factor 1 concentrations. The results of the glucose tolerance tests
revealed marked elevation of insulin (5955 pmol/L and 7677 pmol/L) and
glucose intolerance consistent with insulin resistance. Pituitary
stimulation studies revealed normal thyroid and gonadotropin axes.
CONCLUSIONS--Growth hormone deficiency may account for the short stature in
some patients with Alstrom syndrome. The advanced bone age and normal early
growth may be due to hyperinsulinism. A specific defect in the signal
transduction of insulin action and possibly hormone spillover on another
receptor may account for the existence of insulin resistance in the
presence of normal growth and growth hormone deficiency.
