Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism.
OBJECTIVE
To show mutational analysis for androgen insensitivity syndrome (AIS)-associated male pseudohermaphroditism (MPH).


METHODS
Case report.


METHODS
Key laboratory of endocrinology at a university hospital.


METHODS
Four unrelated Chinese patients with MPH referred to our clinic were investigated in this study.


METHODS
Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of androgen receptor (AR) gene were assessed by polymerase chain reaction and direct sequencing analysis.


METHODS
Molecular characterization of the AR gene.


RESULTS
Four mutations (p.P913R, p.D732 N, p.N848 K, fs879X, and p.R608 K) in the AR gene were identified in our study. The p.P913R mutation in the AR gene has not been described previously.


CONCLUSIONS
Our study identified a novel mutation in the AR gene that may provide us new insights into the molecular mechanisms of AIS. The expanded database of these mutations should benefit patients in the diagnosis and treatment of this syndrome.
Wu
Xueyan
X
Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Zhou
Qi
Q
Mao
Jiangfeng
J
Lu
Shuangyu
S
Nie
Min
M
D000293:Adolescent; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011944:Receptors, Androgen / Q000235:genetics*; D055815:Young Adult
D011944:Receptors, Androgen