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Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.
- Source :
-
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi [Acta Paediatr Taiwan] 2005 Mar-Apr; Vol. 46 (2), pp. 101-5. - Publication Year :
- 2005
-
Abstract
- Androgen insensitivity syndrome (AIS) is the major cause of male pseudohermaphroditism. The severity of the disorders varies widely, ranging from the phenotypic women with female external genitalia in cases of complete AIS to the phenotype of ambiguous genitalia in partial androgen insensitivity syndrome (PAIS) and a rare group of phenotypic normal males with azoospermia. Here, we report an infant of PAIS with a missense mutation at position 2881 (G-->A) in exon 7, encoding substitution of histidine for arginine at codon 840 of the androgen receptor (AR) gene. Both the biochemical and molecular studies are presented. Establishing the diagnosis of PAIS is very important for gender assignment to an infant of ambiguous genitalia. The molecular analysis will facilitate genetic counselling to the maternal side relatives for carrier detection and prenatal diagnosis.
- Subjects :
- Androgen-Insensitivity Syndrome blood
Androgen-Insensitivity Syndrome drug therapy
Base Sequence
DNA Mutational Analysis
Exons genetics
Female
Follicle Stimulating Hormone blood
Humans
Luteinizing Hormone blood
Male
Pedigree
Polymerase Chain Reaction
Testosterone therapeutic use
Treatment Outcome
Androgen-Insensitivity Syndrome genetics
Mutation, Missense
Receptors, Androgen genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1608-8115
- Volume :
- 46
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi
- Publication Type :
- Academic Journal
- Accession number :
- 16302589