Search on: RECEPTOR DEFICIENCY, ANDROGEN 
Descriptors Found: 1
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Descriptor English:   Androgen-Insensitivity Syndrome 
Descriptor Spanish:   Síndrome de Resistencia Androgénica 
Descriptor Portuguese:   Síndrome de Resistência a Andrógenos 
Synonyms English:   AR Deficiencies
AR Deficiency
Androgen Insensitivities, Partial
Androgen Insensitivity Syndrome
Androgen Insensitivity Syndrome, Complete
Androgen Insensitivity Syndrome, Partial
Androgen Insensitivity Syndromes
Androgen Insensitivity, Partial
Androgen Receptor Deficiencies
Androgen Receptor Deficiency
Androgen Resistance Syndrome
Androgen Resistance Syndromes
Androgen-Insensitivity Syndrome, Complete
Androgen-Insensitivity Syndrome, Partial
Androgen-Insensitivity Syndromes
Androgen-Insensitivity Syndromes, Complete
Androgen-Insensitivity Syndromes, Partial
Complete Androgen-Insensitivity Syndrome
Complete Androgen-Insensitivity Syndromes
DHTR Deficiencies
DHTR Deficiency
Deficiencies, AR
Deficiencies, Androgen Receptor
Deficiencies, DHTR
Deficiencies, Dihydrotestosterone Receptor
Deficiency, AR
Deficiency, Androgen Receptor
Deficiency, DHTR
Deficiency, Dihydrotestosterone Receptor
Dihydrotestosterone Receptor Deficiencies
Dihydrotestosterone Receptor Deficiency
Feminization Syndrome, Testicular
Feminization Syndromes, Testicular
Feminization, Testicular
Feminizations, Testicular
Insensitivities, Partial Androgen
Insensitivity Syndrome, Androgen
Insensitivity Syndromes, Androgen
Insensitivity, Partial Androgen
Male Pseudohermaphroditism Due to Androgen Insensitivity
Partial Androgen Insensitivities
Partial Androgen Insensitivity
Partial Androgen-Insensitivity Syndrome
Partial Androgen-Insensitivity Syndromes
Receptor Deficiencies, Androgen
Receptor Deficiencies, Dihydrotestosterone
Receptor Deficiency, Androgen
Receptor Deficiency, Dihydrotestosterone
Reifenstein Syndrome
Reifenstein's Syndrome
Reifensteins Syndrome
Resistance Syndrome, Androgen
Resistance Syndromes, Androgen
Testicular Feminization
Testicular Feminization Syndrome
Testicular Feminization Syndromes
Testicular Feminizations  
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   14113 
Unique Identifier:   D013734 

Occurrence in VHL:
 

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