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. 2019 Mar 26;32(3):253-258.
doi: 10.1515/jpem-2018-0342.

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

Li-Fei Gong  1 , Xiao Gao  2 , Nan Yang  1 , Jin-Qi Zhao  1 , Hai-He Yang  1 , Yuan-Yuan Kong  1
Affiliations

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

Li-Fei Gong et al. J Pediatr Endocrinol Metab. .

Abstract

Background A provisionary screening programme for 21-hydroxylase deficiency (21-OHD) was initiated in Beijing in 2014. The aim of this study was to investigate the incidence and the associated clinical characteristics of neonatal congenital adrenal hyperplasia (CAH) in Beijing and to provide evidence-based guidance for its application in CAH screening. Methods Live birth newborns (n=44,360) were screened for CAH in Beijing from July 2014 to April 2018. The levels of 17-hydroxyprogesterone (17-OHP) in the blood were estimated using the time-resolved fluoroimmunoassay. Neonates with a positive result and a level >30 nmol/L of 17-OHP were called for a retest. CAH was diagnosed based on further laboratory findings combined with clinical signs, such as weight loss, feeding difficulties, skin pigmentation, and atypical genitalia. Through a review of medical records, the clinical findings including molecular data were reported. Results Of the 44,360 neonates screened, 280 cases were deemed positive. Of these, 203 neonates were recalled for further tests and six patients (three boys and three girls) were diagnosed with CAH. Five cases of classic salt-wasting and one case of simple virilising 21-OHD were identified. The incidence of CAH in Beijing was 1:7393. The most frequent 21-OHD mutation was c.293-13C/A>G. Conclusions The incidence of CAH in Beijing was higher than the national average. The results support the need for neonatal CAH screening in Beijing. This pilot study demonstrates the clinical characteristics of 21-OHD through newborn screening. Early detection and treatment through neonatal screening may reduce mortality rates and optimise developmental outcomes.

Keywords: 17-hydroxyprogesterone; 21-hydroxylase deficiency; congenital adrenal hyperplasia; newborn screening.

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References

    1. Concolino P, Mello E, Zuppi C, Capoluongo E. Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations. Clin Chem Lab Med 2010;48:1057–62.
    1. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95:4133–60.
    1. Subspecialty Group of Newborn Screening, Society of Birth Defects Prevention and Control, Chinese Preventive Medicine Association, Subspecialty Group of Clinical Genetics, Society of Adolescent Medicine, Chinese Medical Doctor Association, Chinese Society of Pediatric Endocrinology and Metabolism. Consensus statement on neonatal screening for congenital adrenal hyperplasia. Zhonghua Er Ke Za Zhi 2016;54:404–9.
    1. Gidlöf S, Wedell A, Guthenberg C, von Döbeln U, Nordenström A. Nationwide neonatal screening for congenital adrenal hyperplasia in Sweden: a 26-year longitudinal prospective population-based study. JAMA Pediatr 2014;168:567–74.
    1. White PC. Optimizing newborn screening for congenital adrenal hyperplasia. J Pediatr 2013;163:10–2.

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