[Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome].
BACKGROUND
Androgen insensitivity syndrome is an X-linked disorder of male sexual differentiation caused by mutations in the androgen receptor gene and resulting in a wide range of phenotypes.


OBJECTIVE
To study the androgen receptor gene in two cousins with androgen insensitivity syndrome.


METHODS
We present two patients who attended our clinic for primary amenorrhea. The phenotype and external genitalia were female. Pelvic ultrasonography showed the absence of uterus and female internal genitalia. In both patients the karyotype was 46 XY and consequently both patients underwent bilateral gonadectomy. Histological examination confirmed that the gonads were testes. Molecular study of the androgen receptor gene was performed to confirm androgen insensitivity syndrome.


RESULTS
Both patients showed a thymine deletion in exon 5 at nucleotide 2298 (codon CCT for proline 766) of the androgen receptor gene, causing their phenotype.


CONCLUSIONS
To confirm androgen insensitivity syndrome,t he androgen receptor gene should be analyzed for mutations, although the relationship between genotype and phenotype is weak. To detect carriers of the mutation, karyotyping and study of the androgen receptor gene should be performed in girls who are first relative of the probands.
Soriano Guillén
L
L
Secciones de Endocrinologia, Departamento de Pediatria, Hospital Universitario, Infantil del Nino Jesus, Madrid, Spain.
Muñoz Calvo
M T
MT
Martinez Pérez
J
J
Pozo Román
J
J
Martín Sobrino
M A
MA
González Medeiro
I
I
Argente Oliver
J
J
D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D006965:Hyperplasia; D007621:Karyotyping; D007985:Leydig Cells / Q000473:pathology; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011944:Receptors, Androgen / Q000235:genetics*; D013737:Testis / Q000473:pathology; D013941:Thymine / Q000378:metabolism*
D011944:Receptors, Androgen; D013941:Thymine
Deleción de timina en posición 2298 en el exón 5 del receptor androgénico como responsable de insensibilidad completa a los andrógenos.