Maternal and neonatal factors influencing 17-hydroxy progesterone levels in newborns delivered at a tertiary care hospital

Abstract

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroidogenesis due to deficiency of enzymes involved in normal steroid synthesis.21 hydroxylase being the most common enzyme deficiency accounting for 90% of the cases, of which 75% develop salt wasting crisis in the first 2 weeks of life. If undetected, CAH can lead to electrolyte abnormalities, adrenal crisis, and neonatal mortality. Screening neonates for CAH in various countries has been found to effectively reduce the neonatal morbidity and mortality. However, the levels of 17-hydroxyprogestrone (17-OHP) can be influenced by various perinatal factors including pregnancy induced hypertension, antenatal exposure to betamethasone/dexamethasone, and birth asphyxia making it difficult to determine the optimum cutoff values. Perinatal factors are known to elevate newborn 17-OHP values to levels reaching close to diagnostic cut offs for CAH which can be misleading. Higher 17-OHP levels in preterm is attributed to immaturity of the enzyme's activity, immature hepatic function leading to decreased metabolite clearance of 17-OHP, immature pituitary adrenal stress response, and cross reactions with conjugated steroids in the premature neonate's serum. Hence, necessitating the study of perinatal factors influencing 17-OHP levels in newborns. Objectives: 1. To study the maternal and neonatal factors influencing the serum 17- hydroxyprogesterone levels in newborns viii 2. To estimate the recall rate using the current cut off levels of serum 17- hydroxyprogesterone levels in newborns.