[Diagnosis of the adrenogenital syndrome caused by 11beta-hydroxylase deficiency using gas chromatographic-mass spectrometric analysis of the urinary steroid profile].

Abstract

PROBLEM AND OBJECTIVE:

In 5-7% of all cases of congenital adrenogenital hyperplasia (AGH) there is 11 beta-hydroxylase deficiency (11 beta-HM). Its clinical picture is characterised by hyperandrogenism and, in some cases, arterial hypertension. The diagnosis of the enzyme deficiency depends on a reliable method of analysing the hormone in plasma and urine. As little is known and data often contradictory about the pattern of urinary steroid excretion in 11 beta-HM, these steroid metabolites were measured by a highly specific method.

PATIENT AND METHOD:

The pattern of urinary excretion of steroids was determined by gas chromatography and mass spectrometry (GC/MS) in 16 children and adults (11 males, 5 females: mean age 9(8)/12 [2/12-20(3)/12] years) with 11 beta-HM.

RESULTS:

In all patients there was greatly increased excretion of tetrahydrated (TH) and hexahydrated (HH) metabolites of 11-desoxycortisol (S) and desoxycorticosterone (DOC). The excretion of THS and THDOC was extremely increased in all patients. The metabolites 5 alpha-THS as well as 20 alpha- and 20 beta-isomers of HHS, not normal found in healthy persons, were present in 15 patients (94%), while the 20 alpha- and 20 beta-isomers of 5 alpha-HHS were demonstrated in 14 (88%). For the first time, 20 alpha- and 20 beta-isomers of 5 alpha-HHS were shown to be typical urinary steroid metabolites in 11-HM. The excretion of cortisol metabolites is typically decreased in 11 beta-HM. No corticosterone metabolites were found.

CONCLUSION:

The urinary steroid excretion pattern, measured by GC/MS, is a noninvasive, highly specific and nonselective method in the differential diagnosis of abnormal steroid metabolism.

• Authors: S A Wudy, J Homoki, U A Wachter, W M Teller
• Journal: Deutsche medizinische Wochenschrift (1946) (Dtsch Med Wochenschr) Vol. 122 Issue 1-2 Pg. 3-10; discussion 11 (Jan 03 1997) ISSN: 0012-0472 [Print] Germany
• Vernacular Title: Diagnostik des adrenogenitalen Syndroms vom Typ des 11beta-Hydroxylase-Mangels mit der gaschromatographisch-massenspektrometrischen Harnsteroidrofilanalyse.
• PMID: 9064231 (Publication Type: English Abstract, Journal Article)

Chemical References

• Steroids
• Desoxycorticosterone
• Cortodoxone

Topics

• Adolescent
• Adrenal Hyperplasia, Congenital (diagnosis, etiology, urine)
• Adult
• Child
• Child, Preschool
• Cortodoxone (metabolism)
• Desoxycorticosterone (metabolism)
• Diagnosis, Differential
• Female
• Gas Chromatography-Mass Spectrometry
• Humans
• Infant
• Male
• Steroids (urine)