Mutational analysis of Hungarian patients with androgen insensitivity syndrome.
OBJECTIVE
To support the clinical diagnosis of androgen insensitivity syndrome (AIS), we performed mutational analysis of the androgen receptor gene.


METHODS
Clinical, hormonal and molecular genetic data of ten undervirilized genetic male patients living in Hungary were recorded.


METHODS
PCR-based single strand conformation polymorphism (SSCP) analysis was used to study the whole coding region of the androgen receptor gene. Direct fluorescent sequencing was applied when aberrant migration was detected by SSCP.


RESULTS
Five different mutations were identified in five unrelated genetic male patients with abnormal sexual differentiation. One of these mutations was novel, while the other four mutations have been described previously in the literature. One of the mutations identified earlier in individuals with sporadic AIS showed a familial inheritance pattern in our study group. No abnormality of the androgen receptor gene was identified in three patients clinically suspected to have partial AIS.


CONCLUSIONS
Application of molecular techniques helped to clarify the diagnosis in patients with disorders of male sexual differentiation.
Scheiber
Dóra
D
2nd Department of Paediatrics, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
Barta
Csaba
C
Halász
Zita
Z
Sallai
Agnes
A
Rácz
Károly
K
Ságodi
László
L
Fekete
György
G
Hiort
Olaf
O
Sólyom
János
J
D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D013196:Dihydrotestosterone / Q000097:blood; D005500:Follow-Up Studies; D006801:Humans; D006814:Hungary; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011944:Receptors, Androgen / Q000235:genetics*; D013739:Testosterone / Q000097:blood; D044465:White People / Q000235:genetics
D011944:Receptors, Androgen; D013196:Dihydrotestosterone; D013739:Testosterone