Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita

Background: The early diagnosis and therapy of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can prevent adrenal crises and erroneous gender assignment in affected newborns. To achieve this goal neonatal mass-screening programs have been developed, measuring blood 17 alpha-hy...

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Autores principales:	Cattani O,Andreina, Reyes G,María Loreto, Azócar P,Marta, Soto M,Julia, Romeo O,Eliana, Valdivia V,Ligia, Poggi M,Helena, Foradori C,Arnaldo
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2000
Materias:	Adrenal hyperplasia, congenital Neonatal diseases and abnormalities
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000001000006
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spelling	oai:scielo:S0034-988720000010000062001-01-29Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénitaCattani O,AndreinaReyes G,María LoretoAzócar P,MartaSoto M,JuliaRomeo O,ElianaValdivia V,LigiaPoggi M,HelenaForadori C,Arnaldo Adrenal hyperplasia, congenital Neonatal diseases and abnormalities Background: The early diagnosis and therapy of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can prevent adrenal crises and erroneous gender assignment in affected newborns. To achieve this goal neonatal mass-screening programs have been developed, measuring blood 17 alpha-hydroxyprogesterone (17OHP). In Chile there is no experience with this type of screening. Aim: To develop a method for measuring 17OHP in filter paper blood specimens. To obtain reference ranges and determine neonatal 17OHP threshold levels according to gestational age and birth weight. To analyze factors affecting the cost-efficiency ratio and suggest recommendations for the organization of a neonatal screening program for CAH in Chile. Material and methods: Nine hundred twenty two newborns were studied. 17OHP was measured using double antibody radioimmunoassay in filter paper blood samples obtained 48 h after birth. Reference ranges were determined according to gestational age and birth weight and a cutoff point of 25 ng/ml was established. Results: Seventeen newborns had 17OHP over the cutoff value. They were assessed by a pediatric endocrinologist and in none of them, CAH was confirmed. Therefore the false positive rate of the determination was 1.8%. Among these newborns with elevated 17OHP, 66% had a birth weight below 1.5 kg and 5.8%, a birth weight between 1.5 and 2.5 kg. The cost per reported result was US $ l. Timing of the recall was between the 3 and 10 days of life. No newborn missed the follow-up. Discussion: To increase the cost-efficiency ratio of an eventual neonatal screening program, newborns with birth weights below 1.5 kg should be excluded and cutoff points should be defined according to birth weight (Rev Méd Chile 2000; 128: 1113-18)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.128 n.10 20002000-10-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000001000006es10.4067/S0034-98872000001000006
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Adrenal hyperplasia, congenital Neonatal diseases and abnormalities
spellingShingle	Adrenal hyperplasia, congenital Neonatal diseases and abnormalities Cattani O,Andreina Reyes G,María Loreto Azócar P,Marta Soto M,Julia Romeo O,Eliana Valdivia V,Ligia Poggi M,Helena Foradori C,Arnaldo Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita
description	Background: The early diagnosis and therapy of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can prevent adrenal crises and erroneous gender assignment in affected newborns. To achieve this goal neonatal mass-screening programs have been developed, measuring blood 17 alpha-hydroxyprogesterone (17OHP). In Chile there is no experience with this type of screening. Aim: To develop a method for measuring 17OHP in filter paper blood specimens. To obtain reference ranges and determine neonatal 17OHP threshold levels according to gestational age and birth weight. To analyze factors affecting the cost-efficiency ratio and suggest recommendations for the organization of a neonatal screening program for CAH in Chile. Material and methods: Nine hundred twenty two newborns were studied. 17OHP was measured using double antibody radioimmunoassay in filter paper blood samples obtained 48 h after birth. Reference ranges were determined according to gestational age and birth weight and a cutoff point of 25 ng/ml was established. Results: Seventeen newborns had 17OHP over the cutoff value. They were assessed by a pediatric endocrinologist and in none of them, CAH was confirmed. Therefore the false positive rate of the determination was 1.8%. Among these newborns with elevated 17OHP, 66% had a birth weight below 1.5 kg and 5.8%, a birth weight between 1.5 and 2.5 kg. The cost per reported result was US $ l. Timing of the recall was between the 3 and 10 days of life. No newborn missed the follow-up. Discussion: To increase the cost-efficiency ratio of an eventual neonatal screening program, newborns with birth weights below 1.5 kg should be excluded and cutoff points should be defined according to birth weight (Rev Méd Chile 2000; 128: 1113-18)
author	Cattani O,Andreina Reyes G,María Loreto Azócar P,Marta Soto M,Julia Romeo O,Eliana Valdivia V,Ligia Poggi M,Helena Foradori C,Arnaldo
author_facet	Cattani O,Andreina Reyes G,María Loreto Azócar P,Marta Soto M,Julia Romeo O,Eliana Valdivia V,Ligia Poggi M,Helena Foradori C,Arnaldo
author_sort	Cattani O,Andreina
title	Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita
title_short	Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita
title_full	Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita
title_fullStr	Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita
title_full_unstemmed	Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita
title_sort	medición de 17-oh progesterona sanguínea en recién nacidos chilenos: antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita
publisher	Sociedad Médica de Santiago
publishDate	2000
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000001000006
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Medición de 17-OH progesterona sanguínea en recién nacidos chilenos: Antecedentes para implementar un programa de detección neonata de hiperplasia suprarrenal congénita

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