The Experience of Neonatal Screening for Congenital Adrenal Hyperplasia

Cicognani, Alessandro

doi:10.1159/000182398

Cited by 7 publications

(5 citation statements)

References 9 publications

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“…From this survey we learned that the incidence of 2 1-OH deficiency in Israel was 1:20,987 live births. This incidence is lower than in many other coun tries [6]. We found that the incidence of 2 1-OH deficiency in the Arab population is more than 3 times higher than in the Jewish population (probably because of consangui neous marriages) and that in northern Israel it is as high as 1:5,080 live Arab births.…”

Section: Discussioncontrasting

confidence: 50%

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21-Hydroxylase Deficiency: Screening and Incidence in Israel

et al. 1997

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Background: Neonatal screening for congenital adrenal hyperplasia was introduced in 1977. However, even today only a few national screening programs exist and their cost effectiveness is still debatable. This study was conducted in order to evaluate the advisability of a national or regional screening program in Israel. Methods: From June 1987 until December 1992 we screened a countrywide random sample of 113,846 newborns for 21-hydroxylase (21-OH) deficiency measuring 17α-OH progesterone (17-OHP) from blood spotted on filter paper. Between January 1993 and August 1995 we continued the screening program concentrating on the population of northern Israel. A total of 56,958 newborns were screened. We compared these findings with the incidence of 21-OH deficiency in the total population born in Israel during the years 1986-1991. Results: In the countrywide screening program, 4 newborns (2 Arabs and 2 Jews) were found to have levels of 17-OHP between 409 and 2,049 nmol/l (2 males and 2 females). This constitutes a low incidence of 1 in 28,462 live births. In the north-Israel screening program 4 newborns (all Arabs) were detected (2 males and 2 females) constituting a much higher incidence of 1 in 14,240 live births. The data obtained from the archives revealed that the incidence of 21-OH deficiency nationwide during the years 1986-1991 was 1:19,000 live births, 1:30,000 for Jews and 1:8,000 for Arabs. The incidence of 21-OH deficiency among Arab newborns in the northern part of the country was as high as 1:5,000 (14:71 130). The female to male (F:M) ratio was 2.6:1 and the ratio of the salt-losing to the simple virilizing variant was 5:1. Two male patients were diagnosed prenatally, 21 patients (17 F and 4 M) during the first month after birth and 6 others subsequently. Conclusions: The high F:M ratio of 21-OH deficiency in the total population compared to a 1:1 ratio in our random screening programs suggests that 21-OH-deficient male patients in the general population might have been missed or died early due to a salt-losing crisis. The high incidence of this disease in the northern part of the country and especially among the Arabs, suggests that screening in this part of the country, especially among the Arab population, is warranted and might save the lives of some male patients.

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Section: Discussioncontrasting

confidence: 50%

“…The development of a 17-OHP assay from a filter paper-dried blood spot has facilitated neonatal screening of this dis ease [5]. Although such screening programs began 18 years ago, they are still not widespread [6]. This is because their cost-benefit value is still debatable.…”

Section: Introductionmentioning

confidence: 99%

21-Hydroxylase Deficiency: Screening and Incidence in Israel

et al. 1997

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“…(3), e posteriormente outros pesquisadores, descreveram uma técnica de ensaio para a dosagem da 17OH Progesterona (17OHP) a partir do sangue de recém-nascidos colhido em papel filtro (4)(5)(6)(7).…”

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“…Os resultados mostraram uma incidência de indivíduos com a forma perdedora de sal ainda maior que a esperada, passando de 1:490 para 1:282 após a triagem. Subseqüentemente, vários programas foram iniciados na Itália, Japão, França, Suécia, Suíça, Nova Zelândia e Israel, assim como em outros países onde a incidência da HAC-D21OH é muito elevada, como na Islândia (4)(5)(6)(7)(8). A triagem para HAC-D21OH foi introduzida nos EUA em 1987 e, atualmente, 38 estados norte-americanos realizam rotineiramente esta investigação (9).…”

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Triagem neonatal para hiperplasia adrenal congênita: experiência do estado do Rio de Janeiro

Cardoso

Fonseca

Oliveira

et al. 2005

Arq Bras Endocrinol Metab

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OBJETIVO: Descrever a distribuição das concentrações de 17OH Progesterona (17OHP) na triagem neonatal para pesquisa de Hiperplasia Adrenal Congênita por deficiência da 21hidroxilase (HAC-D21OH). CASUÍSTICA E MÉTODO: Análise da 17OHP por método imunofluorimétrico em 76.360 amostras de sangue colhido em papel filtro no período de junho de 1992 a dezembro de 2000 no Estado do Rio de Janeiro. O valor de corte foi definido em 10ng/mL e os casos com resultados acima deste valor eram chamados para nova coleta. RESULTADOS: Foram reconvocados 38 casos para nova coleta, sendo confirmados 11 casos com a forma clássica da HAC-D21OH (4 do sexo masculino, 6 feminino e 1 indeterminado), com valores de 17OHP na primeira amostra variando de 25 a 254,5ng/mL (média de 133ng/mL) e na segunda amostra de 45,86 a 360ng/mL (média de 218,84ng/mL). Os pacientes com a forma perdedora de sal apresentaram concentrações mais elevadas que os com a forma virilizante simples, tanto na primeira amostra (média de 169,21 contra 27,46ng/mL) quanto na segunda (média de 227,16 versus 110,95ng/mL). As concentrções de 17OHP nos 27 casos não confirmados (falso-positivos) variaram de 10,27 a 27,50ng/mL (média de 14,80ng/mL) na primeira amostra e de 2,39 a 32,39ng/mL (média 10,07ng/mL) na segunda amostra. Oito mantiveram concentrações de 17OHP moderadamente elevadas, sendo que normalizaram no decorrer do primeiro ano de vida em 7 casos, e em 1 paciente, apesar de assintomático, manteve valores elevados de 17OHP durante o acompanhamento de oito anos, com teste de estímulo com ACTH compatível com a forma não clássica da HCA-D21OH. CONCLUSÃO: A dosagem da 17OHP foi um método eficaz para a triagem da HAC-D21OH sendo capaz de discriminar as crianças normais daquelas acometidas pela forma clássica da doença.

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“…The incidence of carriers is approximately 1:55 [Cicognani, 1992;Pang et al, 1988]. In addition, the milder variant of CAH, nonclassical 21-hydroxylase deficiency, arises in about 1% of the general Caucasian population, making this variant one of the most frequent recessively inherited disorders in humans [Speiser et al, 1985], and an important cause of infertility in women [White et al, 1987].…”

Section: Discussionmentioning

confidence: 99%