To improve diagnostic criteria in different (classical salt-wasting (SW), classical simple virilizing (SV) and non classical late onset (LO)) forms of congential adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency, we investigated the urinary excretion of 17-hydroxypregnanolones (17OH-PO(5β) and (5α), 15β-hydroxypregnanolone(15βOH-PO), pregnanetriol(PT) and 11-oxo-pregnanetriol (11-O-PT) compared to hydrocortisone metabolities During the 1st month of life newborn infants with CAH-SW excreted from barely detectable to very large amounts of 17OH-PO(5β), 15βOH-PO and PT, and, in 12 of 14 cases, also 11-O-PT in their urines. From the 1st to the 28th day of life, cortisol metabolites were virtually absent in urines of CAH-SW infants. This was in contrast of 36 healthy newborn infants. We measured the excretion of 17OH-PO(5α) in children with CAH of whom 19 patients with CAH-SV had a median 17OH-PO(5α) excretion of 1110 μg/day (range: 152-5515). In 21patients with CAH-LO, median excretion of 17OH-PO(5α) was 294μg/day (range: 66-1273). Besides the conventional metabolites of 17-hydroxyprogesterone (17OH-PO(5β), PT and 11-O-PT), no 17OH-PO(5α) was detected in the urines of 14 patients with precocious pubarche, in 14 patients with virilization of unknown origin and in 94 healthy children of comparable age. The ratio of 17OH-PO(5α) to tetrahydrocortisone (THE) discriminated between CAH-SV and CAH-LO from the 1st to the 18th year of age. The determination of urinary 17OH-PO(5α) is an excellent diagnostic method in CAH-SV as well as CAH-LO.
- Classical salt-wasting
- Classical simple virilizing
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Non Classical late onset forms
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health