Abstract:Objective To investigate the incidence of congenital adrenal hyperplasia (CAH) and treatment outcomes in neonates in Ningxia, China. Methods The clinical data of CAH screening for 160 046 neonates who were born in midwifery institutions in Ningxia from July 2014 to March 2016 were analyzed. Results Among the 160 046 neonates who underwent CAH screening, 70 (0.044%) obtained a positive result and 11 were diagnosed with CAH; the incidence rate of CAH was 1/14 550 (0.069‰). Among the 11 neonates diagnosed with CAH, 9 had the salt wasting type (2 died) and 2 had simple virilization. The 9 neonates were given glucocorticoids immediately once diagnosed and all of them achieved good growth and development. Conclusions The incidence of neonatal CAH in Ningxia is 1/14 550. It is very necessary to carry out CAH screening in Ningxia, and active treatment can improve the prognosis of neonates with CAH.
MAO Xin-Mei,JING Miao,TIAN Hai-Yan. Screening and follow-up treatment of 160 046 neonates with congenital adrenal hyperplasia in Ningxia, China[J]. CJCP, 2016, 18(8): 698-701.
Forest MG.Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J].Hum Reprod Update,2004,10(6):469-485.
Falhammar H,Frisén L,Norrby C,et al.Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J].J Clin Endocrinol Metab,2014,99(12):E2715-E2721.
[16]
Nascimento ML,Cristiano AN,Campos TD,et al.Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia[J].Arq Bras Endocrinol Metabol,2014,58(7):765-771.
[17]
Tajima T,Fujieda K,Nakae J,et al.Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan[J].J Clin Endocrinol Metab,1997,82(7):2350-2356.
[18]
Larsson A,Hagenfeldt L,von Döbeln U,et al.Neonatal screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone assay in filter paper blood spots[J].Hom Res,1988,30(6):235-240.
[19]
Therrell BL Jr,Berenbaum SA,Manter-Kapanke V,et al.Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia[J].Pediatrics,1998,101(4 Pt 1):583-590.
[20]
Gleeson HK,Wiley V,Wilcken B,et al.Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia[J].J Paediatr Child Health,2008,44(10):554-559.
[21]
Gruñieiro-Papendieck L,Chiesa A,Mendez V,et al.Neonatal screening for congenital adrenal hyperplasia:experience and results in Argentina[J].J Pediatr Endocrinol Metab,2008,21(1):73-78.