Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroids

Abstract In a study using gas chromatography-mass spectrometry (GC-MS) on urine specimens from 16 normal infants and 16 infants with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (aged 1 day to 4 weeks), the major steroids recognized in all infants were: 16α-hydroxy-dehydroepiandrosterone, 16β-hydroxy-dehydroepiandrosterone, 16-oxo-androstenediol, androstenetriol, 15β, 17α-dihydroxy-pregnenolone and 16α-hydroxy-pregnenolone.
Pregnanetriol was detectable in three normal infants (aged 3, 6 and 15 days) but the levels seen in 15 CAH patients were in a higher range. Pregnanetriolone, 5β-17-hydroxy-pregnanolone and 15β, 17α-dihydroxy-pregnanolone were present in the urine of 15 CAH patients, but were not detectable in any of the normal infants. The older the patient, the higher the level was of each of these four steroids.
The results indicate that, even on day 1, patients with CAH due to 21-hydroxylase deficiency may be positively identified using GC-MS of urine specimens. This does not preclude the possibility that a minority of patients with CAH, most likely those with mild 21-hydroxylase deficiency, may not exhibit the characteristic GC-MS findings on day 1, as seen in one of the 18 CAH patients.