International Journal of Clinical Biochemistry and Research
  • Year: 2018
  • Volume: 5
  • Issue: 2

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

  • Author:
  • V. Rajeswari Devi1, R Jothi Malar2,, Santhi Silambanan3, Sungdirenla Jamir4
  • Total Page Count: 3
  • Page Number: 321 to 323

1PG Student, Dept. of Biochemistry, Sri Ramachandra Medical College and Research Institute, Chennai,

2Professor, Dept. of Biochemistry, Sri Ramachandra Medical College and Research Institute, Chennai,

3Professor & HOD, Dept. of Biochemistry, Sri Ramachandra Medical College and Research Institute, Chennai,

4Senior Resident, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India

*Corresponding Author: Email: drjothimalar@gmail.com

Online published on 2 January, 2019.

Abstract

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).

To establish the reference limits of 17-OHP in newborns.

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, 250 g, G2: 1250–2249 g, G3: >2250 g. Based on birth weights 17-OHP cut-off values were determined for each group by rank number.

The reference limits for the three group, < 1, 250 g, 1250–2249 g, >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.

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.

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Keywords

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