Congenital adrenal hyperplasia diagnosis model and construction method and application thereof

Abstract

The invention provides a congenital adrenocortical hyperplasia diagnosis model and a construction method and application thereof, and the construction method comprises the following steps: respectively collecting serum samples of a congenital adrenocortical hyperplasia patient, a similar congenital adrenocortical hyperplasia patient and a healthy subject as analysis samples; analyzing by adopting a liquid chromatography-tandem mass spectrometry technology to obtain an original steroid hormone spectrum of each serum sample; calculating a critical value of the congenital adrenal hyperplasia according to the area under the operation characteristic curve of the subject; the model construction method provided by the invention is simple, strong in operability and high in diagnosis accuracy, and has good sensitivity and specificity to three congenital adrenal hyperplasia subtypes. Diagnosis can be achieved only through one-time blood sampling detection, the process is shortened, the cost is reduced, the initiative and compliance of a patient can be improved, effective technical support is provided for early diagnosis and early treatment of congenital adrenal hyperplasia, and good clinical use and popularization value is achieved.

Description

technical field [0001] The invention belongs to the technical field of diagnosis of congenital adrenal hyperplasia, in particular to 13 steroid hormones detected by liquid chromatography-tandem mass spectrometry, a diagnostic model constructed on the basis of the 13 steroid hormones, and a method for constructing the diagnostic model , the diagnostic model has a good diagnostic effect on the three subtypes of congenital adrenal hyperplasia, and is especially suitable for the diagnosis of non-classical congenital adrenal hyperplasia. Background technique [0002] Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal cortical hormone synthesis, adrenal hyperplasia and steroid hormone metabolism disorders due to defects in enzymes or cofactors required in the adrenal corticosteroid synthesis pathway. 21α-hydroxylase deficiency (21OHD) is the most common, accounting for 90-95%, followed by 11β-hydroxylase deficiency (11β-hydroxylase deficien...

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Problems solved by technology

However, a variety of CAH and non-CAH factors can lead to elevated 17OHP levels

In addition to 21OHD, other subtypes of CAH can also show elevated levels of 17OHP, and some adrenal tumors also show elevated levels of 17OHP [7] , greatly reducing the specificity of the diagnostic method

And for the clinical diagnosis of 11βOHD and 17OHD, there are still no recognized diagnostic criteria and guidelines for diagnosis and treatment

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