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Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone cut-off values based on birth weight

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Original Article

Author Details : Rajeswari Devi V. , Jothi Malar R, Santhi Silambanan, Sungdirenla Jamir

Volume : 5, Issue : 2, Year : 2018

Article Page : 321-323

https://doi.org/10.18231/2394-6377.2018.0066

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Abstract

Introduction: Congenital adrenal hyperplasia (CAH) is an adrenal disorder, most commonly caused by 21- hydroxylase enzyme deficiency. Newborn screening for CAH is done by the measurement of 17-hydroxyprogesterone (17-OHP).

Aim: To establish the reference limits of 17-OHP in newborns.
Materials and Methods: The study was conducted at Sri Ramachandra Medical College and Research Institute (SRMC& RI), Chennai. The clinical data of 360 neonates delivered over a period of two years from January 2015 to December 2016 were retrospectively analyzed. The newborns were grouped according to birth-weight: G1: < 1>2250 g. Based on birth weights 17-OHP cut-off values were determined for each group by rank number.
Results: The reference limits for the three group, < 1>2250 g are 2.23 - 59.3, 1.9 - 29.7 and 1.9 - 15.1 nmol/L respectively. The upper reference limits of all the groups are less than the values showed in the kit literature.
Conclusion: CAH can be diagnosed by measuring 17-OHP at birth as a part of neonatal screening. Population specific and birth weight specific cut off values of 17-OHP will reduce the false positives.

Keywords: Congenital adrenal hyperplasia (CAH), 17-Hydroxyprogesterone (17-OHP), Virilization, Dried blood spot (DBS), Salt-wasting

How to cite : Rajeswari Devi V., Jothi Malar R, Silambanan S, Jamir S, Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone cut-off values based on birth weight. Int J Clin Biochem Res 2018;5(2):321-323

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