Search on: ANDROGEN-INSENSITIVITY SYNDROME 
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Descriptor English:   Androgen-Insensitivity Syndrome 
Descriptor Spanish:   Síndrome de Resistencia Androgénica 
Descriptor Portuguese:   Síndrome de Resistência a Andrógenos 
Synonyms English:   Testicular Feminization  
Tree Number:   C12.706.316.096.500
C13.351.875.253.096.500
C16.131.939.316.096.500
C16.320.322.061
C19.391.119.096.500
Definition English:   A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. 
Indexing Annotation English:   check the tag MALE
History Note English:   2002(1968) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   14113 
Unique Identifier:   D013734 

Occurrence in VHL:
 

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