Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile

Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The proband, a boy with CAH-salt losing form, and his relatives were studied. The...

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Autores principales:	Merino,Paulina, Bachega,Tania, Céspedes,Pablo, Trejo,León, Billerbeck,Ana Elisa, Codner,Ethel
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2007
Materias:	Congenital adrenal hyperplasia CYP21A2 Progesterone
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007001100012
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spelling	oai:scielo:S0034-988720070011000122008-02-08Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en ChileMerino,PaulinaBachega,TaniaCéspedes,PabloTrejo,LeónBillerbeck,Ana ElisaCodner,Ethel Congenital adrenal hyperplasia CYP21A2 Progesterone Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The proband, a boy with CAH-salt losing form, and his relatives were studied. The proband's paternal uncles/aunts were married to the maternal aunts/uncles, respectively. The relatives had normal basal and stimulated 170HProgesterone levels, which did not clarify their carrier status. The CYP21A2 gene was sequenced. The proband and the paternal relatives harbored a Q318X, R483W mutation in one alíele. The maternal relatives and the proband exhibited an R483 frameshift mutation. Early dexametasone treatment was given during two pregnancies and stopped when male gender was confirmed by early ultrasonography Both newborns were healthy and had normal 170HProgesterone levels. This family had three mutations which abolish the 21-hydroxilase activity. Two mutations were detected in codon 483 of CYP21A2 gene, exon 10, which have not been reported previously in Latin-America. The molecular study performed in this family allowed us to give an appropriate genetic counseling and prenatal treatmentinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.135 n.11 20072007-11-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007001100012es10.4067/S0034-98872007001100012
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Congenital adrenal hyperplasia CYP21A2 Progesterone
spellingShingle	Congenital adrenal hyperplasia CYP21A2 Progesterone Merino,Paulina Bachega,Tania Céspedes,Pablo Trejo,León Billerbeck,Ana Elisa Codner,Ethel Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile
description	Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The proband, a boy with CAH-salt losing form, and his relatives were studied. The proband's paternal uncles/aunts were married to the maternal aunts/uncles, respectively. The relatives had normal basal and stimulated 170HProgesterone levels, which did not clarify their carrier status. The CYP21A2 gene was sequenced. The proband and the paternal relatives harbored a Q318X, R483W mutation in one alíele. The maternal relatives and the proband exhibited an R483 frameshift mutation. Early dexametasone treatment was given during two pregnancies and stopped when male gender was confirmed by early ultrasonography Both newborns were healthy and had normal 170HProgesterone levels. This family had three mutations which abolish the 21-hydroxilase activity. Two mutations were detected in codon 483 of CYP21A2 gene, exon 10, which have not been reported previously in Latin-America. The molecular study performed in this family allowed us to give an appropriate genetic counseling and prenatal treatment
author	Merino,Paulina Bachega,Tania Céspedes,Pablo Trejo,León Billerbeck,Ana Elisa Codner,Ethel
author_facet	Merino,Paulina Bachega,Tania Céspedes,Pablo Trejo,León Billerbeck,Ana Elisa Codner,Ethel
author_sort	Merino,Paulina
title	Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile
title_short	Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile
title_full	Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile
title_fullStr	Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile
title_full_unstemmed	Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile
title_sort	utilidad del estudio molecular de cyp21a2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en chile
publisher	Sociedad Médica de Santiago
publishDate	2007
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007001100012
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Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile

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