Pregnanetriolone Explained

Pregnanetriolone, or 11-ketopregnanetriol, is a steroid hormone.

Clinical significance

There is no or little urinare excretion of pregnanetriolone in the urine in healthy people.^[1]

Pregnanetriolone is a metabolite of 21-deoxycortisol.^{[1] [2]}

In patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH), the daily excretion exceeds 100 μg. ACTH stimulation increased excrement even further. It has been concluded since at least 1974 that the excretion of pregnenolone in urine after ACTH stimulation test can help detect heterozygous carriers of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (non-classical forms of CAH).^{[3] [4] [5] [6]} These conclusions were confirmed by later studies.^{[1] [7]}

Pregnanetriolone can be used as a marker screening and for monitoring of treatment in infants with classical forms of CAH.^[8]

See also

• Pregnanetriol

Notes and References

1. Homma K, Hasegawa T, Takeshita E, Watanabe K, Anzo M, Toyoura T, Jinno K, Ohashi T, Hamajima T, Takahashi Y, Takahashi T, Matsuo N . Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates . J Clin Endocrinol Metab . 89 . 12 . 6087–91 . December 2004 . 15579762 . 10.1210/jc.2004-0473 . free .
2. Greaves RF, Kumar M, Mawad N, Francescon A, Le C, O'Connell M, Chi J, Pitt J . Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation . Int J Neonatal Screen . 9 . 4 . October 2023 . 58 . 37873849 . 10594498 . 10.3390/ijns9040058 . free .
3. Homoki J, Teller WM, Fazekas AT . A test for heterozygocity of 21-hydroxylase deficiency: preliminary report . Human Genetics . 32 . 1 . 35–41 . April 1976 . 177352 . 10.1007/BF00569974 . 20559786 .
4. Halperin G, Finkelstein M . Biosynthesis of pregnanetriolone and pregnanetetrol in congenital adrenal hyperplasia . Acta Endocrinologica . 54 . 3 . 439–51 . March 1967 . 6071362 . 10.1530/acta.0.0540439 .
5. Thomas FJ, Steinbeck AW . Quantitative estimation of urinary pregnanetriol, pregnanetriolone, tetrahydro S and delta-5-pregnenetriol in the investigation of adrenocortical function . Acta Endocrinologica . 60 . 4 . 657–68 . April 1969 . 5819067 . 10.1530/acta.0.0600657 .
6. Zachmann M, Prader A . Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency . Acta Endocrinologica . 87 . 3 . 557–65 . March 1978 . 580145 . 10.1530/acta.0.0870557 .
7. Alonso-Fernández JR . Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening . Molecular Genetics and Metabolism Reports . 8 . 99–102 . September 2016 . 27570738 . 4992010 . 10.1016/j.ymgmr.2016.08.006 .
8. Kamrath C, Friedrich C, Hartmann MF, Wudy SA . Metabotypes of congenital adrenal hyperplasia in infants determined by gas chromatography-mass spectrometry in spot urine . J Steroid Biochem Mol Biol . 231 . 106304 . July 2023 . 36990162 . 10.1016/j.jsbmb.2023.106304 . 257775623 .