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Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
Tülay Güran1, Başak Tezel2, Fatih Gürbüz3
1Marmara University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, İstanbul, Turkey
Insights
Newborn screening for Congenital Adrenal Hyperplasia (CAH) in Turkey identified a higher incidence of classical 21-hydroxylase deficiency (21-OHD) than previously reported. Steroid profiling as a second-tier test improved screening efficacy.
Area of Science:
- Pediatric Endocrinology
- Biochemistry
- Public Health
Background:
- Congenital Adrenal Hyperplasia (CAH) is the most common cause of primary adrenal insufficiency in children.
- Neonatal screening effectively detects the salt-wasting (SW) form of CAH, reducing mortality.
- Assessing the incidence and screening strategy for CAH in Turkey is crucial for public health initiatives.
Purpose of the Study:
- To estimate the incidence of CAH in Turkey.
- To evaluate the characteristics and efficacy of the implemented newborn CAH screening strategy.
- To determine the incidence of classical 21-hydroxylase deficiency (21-OHD) in the screened population.
Main Methods:
- A pilot newborn CAH screening study was conducted in four Turkish cities.
- A two-tier testing protocol was employed, starting with 17α-hydroxyprogesterone (17-OHP) measurement in dried blood spots (DBS).
- Positive initial screens were followed by steroid profiling using liquid chromatography-tandem mass spectrometry for confirmation.
Main Results:
- 38,935 infants were screened, with 5.82% requiring second-tier testing and 0.54% referred for clinical assessment.
- Six infants were diagnosed with CAH, including four with SW 21-OHD, one with simple virilizing 21-OHD, and one with 11-OHD CAH.
- The incidence of classical 21-OHD was determined to be 1:7,787 in the screened population.
Conclusions:
- The incidence of CAH due to classical 21-OHD in Turkey is higher than previously reported.
- It is recommended that CAH be included in the routine newborn screening panel in Turkey.
- Steroid profiling as a second-tier test enhances screening efficacy and reduces false-positive results.
Objective:
Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt-wasting (SW) form and in reducing mortality. In this study, our aim was to estimate the incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy.
Methods:
A pilot newborn CAH screening study was carried out under the authority of the Turkish Directorate of Public Health. Newborn babies of ≥32 gestational weeks and ≥1500 gr birth weight from four cities, born between March 27-September 15, 2017 were included in the study. Screening protocol included one sample two-tier testing. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. The cases with positive initial screening were tested by steroid profiling in DBS using a liquid chromatography-tandem mass spectrometry method to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione as a second-tier test. The babies with a steroid ratio (21-S+17-OHP)/F of ≥0.5 were referred to pediatric endocrinology clinics for diagnostic assessment.
Results:
38,935 infants were tested, 2265 (5.82%) required second-tier testing and 212 (0.54%) were referred for clinical assessment, six of whom were diagnosed with CAH (four males, two females). Four cases were identified as SW 21-hydroxylase deficiency (21-OHD) (two males, two females). One male baby had simple virilizing 21-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD in the screened population was 1:7,787.
Conclusion:
The incidence of CAH due to classical 21-OHD is higher in Turkey compared to previous reports. We, therefore, suggest that CAH be added to the newborn screening panel in Turkey. The use of steroid profiling as a second-tier test was found to improve the efficacy of the screening and reduce the number of false-positives.
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