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Clinical Chemistry 38: 76-82, 1992;
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Clinical Chemistry, Vol 38, 76-82, Copyright © 1992 by American Association for Clinical Chemistry

Serum steroid hormonal profiles by reversed-phase liquid chromatography in patients with 17-hydroxylase deficiency and in an affected family

JQ Wei, JL Wei, C Lucarelli, XT Zhou, DQ Wang, WJ Dai, S Li, SM Li and RT Liu
Department of Endocrinology, Affiliated Hospital of Shandong Medical University, Jinan, People's Republic of China.

We used an optimized isocratic reversed-phase high-performance liquid- chromatographic procedure to separate and measure 12 steroid hormones, and studied the steroid hormone profiles in sera from three patients with 17-hydroxylase deficiency (17-OHD). Two of the patients were sisters, one of whom (II-3), expressing normotension and primary amenorrhea, was diagnosed on the basis of chromatographic data and followed up for seven years. The untreated patients had obvious abnormalities on chromatograms of serum extracts, characterized by markedly increased corticosterone (B) and decreased or undetectable cortisol (F) and cortisone (E). The concentration of 11- deoxycorticosterone was much greater in the patient with classical symptoms than in the normotensive patient. In all three patients, concentrations of aldosterone were within the normal range, but concentrations of progesterone were much lower than in the patients with 21-hydroxylase deficiency. We evaluated the responses to corticotropin and dexamethasone. HPLC evaluation of the serum steroid profiles before and after corticotropin stimulation in the affected family showed that in the parents and one other sibling, concentrations of F before and after stimulation were within the normal ranges. The sums of the ratio of B to F before and the ratio of B to F after corticotropin stimulation (sigma B/F) in the parents and the other sibling were 0.292, 0.496, and 0.614, respectively, all much higher than the normal value (mean +/- SD: 0.164 +/- 0.038). Thus the sigma B/F value may be a hormonal marker of heterozygotes carrying this defect.


The following articles in journals at HighWire Press have cited this article:


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 J. Clin. Endocrinol. Metab.Home page
J.-Q. Wei, J.-L. Wei, W.-C. Li, Y.-S. Bi, and F.-C. Wei
Genotyping of Five Chinese Patients with 17{alpha}-Hydroxylase Deficiency Diagnosed through High-Performance Liquid Chromatography Serum Adrenal Profile: Identification of Two Novel CYP17 Mutations
J. Clin. Endocrinol. Metab., September 1, 2006; 91(9): 3647 - 3653.
[Abstract] [Full Text] [PDF]


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Copyright © 1992 by the American Association for Clinical Chemistry.