title: Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)
abstract: In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene. Direct sequencing showed a G-A point mutation at position 2818 of exon 7, which was responsible for an arginine-histidine substitution at position 840 of the androgen receptor. In this family, the proband's mother became pregnant and wished to know whether she was carrying an unaffected fetus. Polymerase chain reactions of the sex-determining region of the Y chromosome (the SRY gene) on trophoblastic DNA at week 14 revealed a 46,XY genotype. Sequencing analysis showed the canonical sequence (CGT, encoding an Arg residue), suggesting that the fetus was not affected. The expectation of normal male sexual development was confirmed by detection of normal male external genitalia through ultrasonography at week 24. These data confirm that sequence analysis of the androgen receptor gene on trophoblastic DNA is the most reliable method for prenatally diagnosing or excluding androgen insensitivity syndrome in high-risk families.
authors.affiliation: Unité de Biochimie Endocrinienne du Développement et de la Reproduction, Hôpital Lapeyronie, Montpellier, France.
authors.forename: S
authors.initials: S
authors.lastname: Lumbroso
authors.forename: J M
authors.initials: JM
authors.lastname: Lobaccaro
authors.forename: C
authors.initials: C
authors.lastname: Belon
authors.forename: S
authors.initials: S
authors.lastname: Amram
authors.forename: B
authors.initials: B
authors.lastname: Bachelard
authors.forename: P
authors.initials: P
authors.lastname: Garandeau
authors.forename: C
authors.initials: C
authors.lastname: Sultan
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis / Q000737:chemistry; D017931:DNA Primers / Q000737:chemistry; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D005091:Exons; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology; D011944:Receptors, Androgen / Q000032:analysis / Q000235:genetics; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D011944:Receptors, Androgen; D004247:DNA