Method for simultaneously determining six related steroid hormones of CAH

Abstract

The invention relates to the field of screening of congenital adrenal hyperplasia, in particular to a method for simultaneously determining six related steroid hormones of CAH. The six related steroid hormones are 17 alpha-hydroxyprogesterone, androstenedione, 11-deoxycortisol, 21-deoxycortisol, cortisol and corticosterone; the determination method comprises the following steps: S1, respectively preparing a mixed internal standard product, a quality control product and a standard curve product; s2, preparing a sample extracting solution; s3, extracting and incubating a sample; s4, concentrating the redissolved sample; and S5, determining the reconstitution fluid by using a liquid chromatography tandem mass spectrometer, drawing a calibration curve, and calculating the concentrations of 17 alpha-hydroxyprogesterone, androstenedione, 11-deoxycortisol, 21-deoxycortisol, cortisol and corticosterone in the sample to be detected. The CAH screening specificity and the positive predicted value can be effectively improved. And the detected analyte contains corticosterone, so that 11-OHD and 21-OHD are more effectively distinguished in CAH screening, and the CAH screening efficiency is improved.

Description

technical field [0001] The invention relates to the field of congenital adrenal hyperplasia screening, in particular to a method for simultaneously measuring six CAH-related steroid hormones. Background technique [0002] Congenital adrenal hyperplasia (CAH) is a relatively common autosomal recessive disorder caused by congenital defects in enzymes required for the synthesis of corticosteroids. Insufficient synthesis of cortisol reduces blood concentration. Due to negative feedback, it stimulates the pituitary to secrete adrenocorticotropic hormone, which leads to adrenal hyperplasia and excessive secretion of cortisol precursors, such as 11-deoxycortisol and adrenal androsterone, etc. , resulting in a series of clinical symptoms. The main clinical symptoms are: 1. Salt-losing type, which is the type with the most severe clinical manifestations, which can show severe hyponatremia, lethargy, vomiting and slow weight gain; 2. Simple masculinization, except for no In addition...

AI Technical Summary

Problems solved by technology

However, due to the existence of cross-reactivity, the specificity of this technique is low, resulting in a high false positive rate and low positive predictive value.

Moreover, 11β-hydroxylase deficiency, which accounts for a relatively high incidence in CAH, cannot be effectively detected

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