ESPE Abstracts (2023) 97 P1-477

ESPE2023 Poster Category 1 Fetal, Neonatal Endocrinology and Metabolism (34 abstracts)

Newborn screening for Congenital adrenal hyperplasia in Pakistan; Pioneering the way forward

Fozia Memon 1 , Sibtain Ahmed 1 , Muzna Arif 2 , Maryam Haider 3 , Salman Kirmani 3 & Khadija Nuzhat Humayun 3

1Aga khan university, karachi, Pakistan. 2Aga khan University, karachi, Pakistan. 3Aga khan university, karachi, Pakistan

Objective: This study aims to evaluate the effectiveness and efficiency of weight-based threshold levels for 17-hydroxyprogesterone (17-OHP) in screening newborns for 21 hydroxylases deficiency-congenital adrenal hyperplasia (CAH)

Design: In April 2021 CAH screening was incorporated into the ongoing newborn screening program at aga khan university Hospital Karachi Pakistan,17OHp was assayed through Spectro fluorometry of Dried blood spots obtained via heel prick. The cutoff levels of 17OHP were determined based on the birth weight and age of the sampling.

Results: From April 2021-March 2023, 9837 newborns were screened for CAH out of a total of 10821 births, only one CAH patient was detected, and therapy was started at a median age of 7 days. A recall for suspected CAH was performed in 124 cases with a mean coverage of 90.9%. `The overall prevalence was 1:9837. The specificity was 98.8%. The positive and negative predictive value was 81.0% and 100%, respectively. To date, no false-negative cases have been detected.

Conclusion: Employing weight-based standards to assess 17-OHP levels during the screening process for 21-OH-D-CAH has been found to significantly lower the number of false-positive outcomes. The effectiveness and efficiency of utilizing this method for screening newborns for 21-OH-D-CAH will be determined through extended follow-up of the screened population.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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