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[Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family].
Rev Med Chil. 2007 Nov; 135(11):1450-5.RM

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 17OHProgesterone 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 allele. The maternal relatives and the proband exhibited an R483 frameshift mutation. Early dexamethasone treatment was given during two pregnancies and stopped when male gender was confirmed by early ultrasonography Both newborns were healthy and had normal 17OHProgesterone levels. This family had three mutations which abolish the 21-hydroxylase 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.

Authors+Show Affiliations

Departamento de Obstetricia y Ginecología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

spa

PubMed ID

18259657

Citation

Merino, Paulina, et al. "[Molecular Study of CYP21A2 Gene for Prenatal Diagnosis of Congenital Adrenal Hyperplasia. Report of a Family]." Revista Medica De Chile, vol. 135, no. 11, 2007, pp. 1450-5.
Merino P, Bachega T, Céspedes P, et al. [Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family]. Rev Med Chil. 2007;135(11):1450-5.
Merino, P., Bachega, T., Céspedes, P., Trejo, L., Billerbeck, A. E., & Codner, E. (2007). [Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family]. Revista Medica De Chile, 135(11), 1450-5. https://doi.org//S0034-98872007001100012
Merino P, et al. [Molecular Study of CYP21A2 Gene for Prenatal Diagnosis of Congenital Adrenal Hyperplasia. Report of a Family]. Rev Med Chil. 2007;135(11):1450-5. PubMed PMID: 18259657.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family]. AU - Merino,Paulina, AU - Bachega,Tania, AU - Céspedes,Pablo, AU - Trejo,León, AU - Billerbeck,Ana Elisa, AU - Codner,Ethel, Y1 - 2008/01/16/ PY - 2008/2/9/pubmed PY - 2008/6/18/medline PY - 2008/2/9/entrez SP - 1450 EP - 5 JF - Revista medica de Chile JO - Rev Med Chil VL - 135 IS - 11 N2 - 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 17OHProgesterone 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 allele. The maternal relatives and the proband exhibited an R483 frameshift mutation. Early dexamethasone treatment was given during two pregnancies and stopped when male gender was confirmed by early ultrasonography Both newborns were healthy and had normal 17OHProgesterone levels. This family had three mutations which abolish the 21-hydroxylase 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. SN - 0034-9887 UR - https://www.unboundmedicine.com/medline/citation/18259657/[Molecular_study_of_CYP21A2_gene_for_prenatal_diagnosis_of_congenital_adrenal_hyperplasia__Report_of_a_family]_ L2 - http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007001100012&lng=en&nrm=iso&tlng=en DB - PRIME DP - Unbound Medicine ER -