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Rarity of Congenital Adrenal Hyperplasia in Children Born Very Preterm: Possible Mechanism and Implication for
Asmahane Ladjouze1,2, Yasmina Ouarezki3,4, Adel Djermane3,4
1Department of Paediatrics A, Centre Hospitalo-Universitaire Béni-Messous, Algiers, Algeria, a.ladjouze@univ-alger.dz.
Insights
Newborn screening for congenital adrenal hyperplasia (CAH) is crucial in Algeria to balance sex ratios. The study suggests restricting screening to infants born after 32 weeks gestation may improve cost-effectiveness.
Area of Science:
- Endocrinology
- Genetics
- Neonatal Health
Background:
- Congenital adrenal hyperplasia (CAH) screening via 17-hydroxyprogesterone aims to prevent deaths, reduce salt-wasting severity, and correct sex assignment in virilized females.
- Current screening is common in high-income nations but has low predictive value for preterm infants and is largely absent in low- and middle-income countries.
Purpose of the Study:
- To assess the justification of implementing CAH newborn screening in Algeria.
- To evaluate the prevalence of premature birth and the sex ratio in Algerian infants diagnosed with CAH.
Main Methods:
- Analysis of a cohort of 299 singleton Algerian infants diagnosed with CAH.
- Assessment of gestational age at birth and the sex ratio among affected infants.
Main Results:
- Only 4% of CAH infants were born preterm (before 37 weeks), lower than the general Algerian population rate (14.3%).
- No infants were born before 34 weeks gestation.
- The salt-wasting (SW) form of CAH was diagnosed in 93 boys and 139 girls.
Conclusions:
- The rarity of very preterm birth in Algerian CAH infants may be linked to fetal hormonal production (high 17-hydroxyprogesterone, low cortisol).
- Newborn screening for CAH is recommended for Algeria to equalize the sex ratio.
- Screening could be limited to neonates born after 32 weeks gestation to enhance cost-effectiveness.
Introduction:
Screening for congenital adrenal hyperplasia (CAH) through the measurement of 17-hydroxyprogesterone on the neonatal blood spot aims to: (a) prevent neonatal deaths; (b) allow earlier identification and thereby decrease the severity of the initial salt-wasting episode; and (c) shorten the time during which a severely virilized genetic female newborn may be assigned the male sex. It is now practiced in the majority of high-income countries, although the positive predictive value of the test is very low in infants born preterm, who seem to be infrequently affected. In almost all low- and middle-income countries, it has not yet been implemented.
Methods:
To determine if it is justified in such a country, we evaluated the prevalence of premature birth and the sex ratio in a cohort of 299 singleton Algerian infants diagnosed with CAH.
Results:
Only 4% were born before 37 weeks of gestational age, less than the 14.3% observed in the general Algerian population. None was born before 34 weeks of gestation. The SW form of the disease was confirmed in 93 boys and 139 girls.
Conclusion:
We speculate that the combination of a high production of 17-hydroxyprogesterone with a low production of cortisol by the fetus with CAH accounts for the rarity of very preterm birth in this population. We suggest that newborn screening for CAH is necessary in Algeria to equalize the sex ratio but that it could be restricted to neonates born after 32 weeks of gestation, thereby possibly improving the cost-effectiveness ratio of this intervention.
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