Marilza Leal Nascimento, Anísia Nhelety Baptista Cristiano, Tatiane de Campos, Masanao Ohira, Edson Cechinel, Genoir Simoni, Juliana van de Sande Lee, Rose Marie Muller Linhares, Paulo Cesar Alves da Silva
{"title":"先天性肾上腺增生新生儿筛查项目的十年评价。","authors":"Marilza Leal Nascimento, Anísia Nhelety Baptista Cristiano, Tatiane de Campos, Masanao Ohira, Edson Cechinel, Genoir Simoni, Juliana van de Sande Lee, Rose Marie Muller Linhares, Paulo Cesar Alves da Silva","doi":"10.1590/0004-2730000003310","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program.</p><p><strong>Subjects and methods: </strong>Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations.</p><p><strong>Results: </strong>The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone.</p><p><strong>Conclusions: </strong>The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.</p>","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2014-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/0004-2730000003310","citationCount":"20","resultStr":"{\"title\":\"Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia.\",\"authors\":\"Marilza Leal Nascimento, Anísia Nhelety Baptista Cristiano, Tatiane de Campos, Masanao Ohira, Edson Cechinel, Genoir Simoni, Juliana van de Sande Lee, Rose Marie Muller Linhares, Paulo Cesar Alves da Silva\",\"doi\":\"10.1590/0004-2730000003310\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program.</p><p><strong>Subjects and methods: </strong>Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations.</p><p><strong>Results: </strong>The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone.</p><p><strong>Conclusions: </strong>The incidence of CAH was 1 case to 14,967 live newborns. 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引用次数: 20
摘要
目的:评价圣卡塔琳娜州卫生部(secretariat de Estado da Saúde de Santa Catarina, SES/SC)先天性肾上腺增生症(CAH)新生儿筛查方案(NSP),并为改进该方案提供信息。研究对象和方法:对2001年1月至2010年12月筛查的748,395名儿童进行描述性、回顾性研究。我们分析了NSP-SES/SC CAH患病率的覆盖率、首次采集17-羟孕酮(17OHP)样本时的儿童年龄、17OHP水平、治疗开始时的平均年龄和主要临床表现。结果:NSP-SES/SC覆盖了该州89%的活产新生儿。诊断出50例CAH,发病率为1:14,967。第一次采集时平均年龄7.3 d, 17OHP平均水平为152.9 ng/mL。最常见的表现是生殖器男性化,性腺摸不到,阴蒂肥大和生殖器色素沉着。在三个女孩身上,出生时确立的体裁是不正确的。在74%的病例中存在盐消耗形式。没有发生休克或死亡。盐损耗型患者的平均发病年龄为17.4天,而无盐损耗型患者的平均发病年龄为54.9天。所有的儿童都用氢化可的松治疗,那些盐消耗性CAH也用氟化可的松治疗。结论:14967例活产儿中CAH发生率为1例。第一次样本采集时间超出了建议时间,导致治疗开始延迟。
Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia.
Objective: Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program.
Subjects and methods: Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations.
Results: The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone.
Conclusions: The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.