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"Dot-17 alpha-hydroxyprogesterone" radioimmunoassay for identification of congenital adrenal hyperplasia in young infants.

作者信息

Sólyom J, Hervei S, Marossy P, Sólyom E, Babosa M, Szombathy G

出版信息

Acta Paediatr Scand. 1981 Nov;70(6):913-7. doi: 10.1111/j.1651-2227.1981.tb06250.x.

DOI:10.1111/j.1651-2227.1981.tb06250.x
PMID:7324946
Abstract

Using a simplified radioimmunoassay method for the determination of 17-hydroxyprogesterone (17-OHP) concentration in blood dried on filter paper seven untreated cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal hyperplasia (CAH) having ambiguous genitalia and/or failure to thrive with electrolyte disturbances. In three additional cases the diagnosis of congenital adrenal hyperplasia was confirmed by high 'dot-17-OHP' values even after glucocorticoid therapy had been started. Capillary blood samples taken in a local hospital on a filter paper routinely used for the screening of phenylketonuria can be sent by mail into a central laboratory for performing the analysis. Assays of 'dot-17-OHP' are clearly of diagnostic value in the C21-hydroxylase form of CAH and permit a rapid diagnosis of this condition in the newborn period.

摘要

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引用本文的文献

1
Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia.未经治疗的先天性肾上腺皮质增生症患者血液中17-羟孕酮浓度的昼夜变化。
Arch Dis Child. 1984 Aug;59(8):743-7. doi: 10.1136/adc.59.8.743.
2
Value of selective screening for congenital adrenal hyperplasia in Hungary.匈牙利先天性肾上腺皮质增生症选择性筛查的价值。
Arch Dis Child. 1989 Mar;64(3):338-42. doi: 10.1136/adc.64.3.338.