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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 / Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia: Report of a family
Merino, Paulina; Bachega, Tania; Céspedes, Pablo; Trejo, León; Billerbeck, Ana Elisa; Codner, Ethel.
  • Merino, Paulina; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Obstetricia y Ginecología. Santiago. CL
  • Bachega, Tania; Universidad de Sao Paulo. Facultad de Medicina. Hospital das Clínicas. Laboratorio de Hormónios e Genética Molecular. Sao Paulo. BR
  • Céspedes, Pablo; Universidad de Chile. Escuela de Medicina. Instituto de Investigación Materno Infantil. Santiago. CL
  • Trejo, León; Universidad de Chile. Escuela de Medicina. Instituto de Investigación Materno Infantil. Santiago. CL
  • Billerbeck, Ana Elisa; Universidad de Sao Paulo. Facultad de Medicina. Hospital das Clínicas. Laboratorio de Hormónios e Genética Molecular. Sao Paulo. BR
  • Codner, Ethel; Universidad de Chile. Escuela de Medicina. Instituto de Investigación Materno Infantil. Santiago. CL
Rev. méd. Chile ; 135(11): 1450-1455, nov. 2007. graf, tab
Article in Spanish | LILACS | ID: lil-472845
ABSTRACT
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.
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Full text: Available Index: LILACS (Americas) Main subject: Prenatal Diagnosis / Adrenal Hyperplasia, Congenital / Mutation Type of study: Diagnostic study Limits: Adult / Female / Humans / Male / Infant, Newborn / Pregnancy Country/Region as subject: South America / Chile Language: Spanish Journal: Rev. méd. Chile Journal subject: Medicine Year: 2007 Type: Article / Project document Affiliation country: Brazil / Chile Institution/Affiliation country: Pontificia Universidad Católica de Chile/CL / Universidad de Chile/CL / Universidad de Sao Paulo/BR

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Full text: Available Index: LILACS (Americas) Main subject: Prenatal Diagnosis / Adrenal Hyperplasia, Congenital / Mutation Type of study: Diagnostic study Limits: Adult / Female / Humans / Male / Infant, Newborn / Pregnancy Country/Region as subject: South America / Chile Language: Spanish Journal: Rev. méd. Chile Journal subject: Medicine Year: 2007 Type: Article / Project document Affiliation country: Brazil / Chile Institution/Affiliation country: Pontificia Universidad Católica de Chile/CL / Universidad de Chile/CL / Universidad de Sao Paulo/BR