Effect of gender, birth weight and gestational age on serum 17-hydroxyprogesterone concentration and distribution among neonates in Saudi Arabia

Abstract

Blood samples from 813 newborns were spotted on to filter paper and the 17-hydroxyprogesterone concentration was measured using the Delfia (R) fluorometric immunoassay. The median, mean, and standard deviation (SD) for the total population were 20, 21 and (11) nmol/L respectively. Males had significantly higher levels than females with median, mean and (SD) of 22, 22 and (12) nmol/L. Similarly, low birth weight babies were found to have significantly higher levels than normal birth weight babies with median, mean and (SD) of 21, 24 (12) nmol/L. Preterm babies were also found to have significantly higher levels than full term babies, with median, mean and (SD) of 25, 29 (16) nmol/L. As experienced elsewhere, those factors should be taken into consideration when considering a cut-off point in any neonatal screening program for congenital adrenal hyperplasia.

Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls

“…13 A key finding of this study is that female infants have an average 17-OHP concentration that is 2 ng/mL lower than male infants; a report noted a difference between male and female infants in the 17-OHP concentration. 21 Although sexspecific differences in neonatal adrenal or, more likely, gonadal function at birth might explain higher levels of 17-OHP in male infants, we have not found any published evidence to support this assertion.…”

Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening

“…Even the collection of samples within 24 h of life can increase the rate of false positivity. Low birth weight, prematurity and birth stress cause high 17-OHP levels [25,27,37]. Gidlof et al analysed the screening data from Sweden where 2 737 932 infants (99.8%) underwent testing between 1 January 1986 until 31 December 2011 [23].…”

“…However, in the beginning of newborn screening, many laboratories have used an immunologic method to measure 17-OHP. This method had a high number of false-positive results attributable to cross-reactivity with other steroids, and stress-induced high concentrations of 17-OHP in premature babies [25,26]. By adjustment of 17-OHP cutoff values for birth weight, gestational age, and sampling age [27,28], a clear reduction of the false positive results could be achieved.…”

Gender of Offspring and Maternal Risk of Invasive Epithelial Ovarian Cancer

“…Progesterone levels in maternal and fetal blood tend to be higher in male bearers than female bearers, although the difference was not significant (43,50). Studies that measured 17-hydroxyprogesterone, a metabolite of progesterone, have found significantly higher blood levels in males than in female newborns (51), particularly among the full-term deliveries (52). Whereas IGF-I plays an important role in fetal growth and development and has a strong positive association with birth weight of newborns (53,54), gender difference in maternal and fetal levels of IGF-I has not been consistently observed (55,56).…”