Clinical and hormonal responses to a standard three-day human chorioni
c gonadotropin (hCG)-stimulation test (1,500 IU given intramuscularly
for three days) were studied in six neonates with ambiguous genitalia.
All patients were eventually determined to be 46,XY genetic males wit
h a microphallus and various other genital abnormalities. None had an
enzymatic defect in steroidogenesis or a 5alpha-reductase deficiency,
as determined by standard adrenocorticotropic hormone (ACTH) and hCG t
esting. All patients demonstrated penile growth (0.25 to 0.75 cm) with
in five days of hCG administration, with four of six patients achievin
g a normal penile length (>2.0 cm) by 48 hours after the last of three
daily hCG injections. Androgen responsiveness suggested by phallic gr
owth may help support a male sex assignment in such infants.