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Androgen-Insensitivity Syndrome MeSH Descriptor Data 2022


MeSH Heading
Androgen-Insensitivity Syndrome
Tree Number(s)
C12.050.351.875.253.096.500
C12.200.706.316.096.500
C12.800.316.096.500
C16.131.939.316.096.500
C16.320.322.061
C19.391.119.096.500
Unique ID
D013734
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D013734
Annotation
check the tag MALE
Scope Note
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.
Entry Term(s)
AR Deficiency
Androgen Insensitivity Syndrome
Androgen Insensitivity, Partial
Androgen Receptor Deficiency
Androgen Resistance Syndrome
Androgen-Insensitivity Syndrome, Complete
Androgen-Insensitivity Syndrome, Partial
DHTR Deficiency
Dihydrotestosterone Receptor Deficiency
Male Pseudohermaphroditism Due to Androgen Insensitivity
Reifenstein Syndrome
Reifenstein's Syndrome
Testicular Feminization
Testicular Feminization Syndrome
NLM Classification #
WJ 712
Previous Indexing
Sex Differentiation Disorders (1966-1967)
Public MeSH Note
2002; see TESTICULAR FEMINIZATION (1970-2001)
History Note
2002(1968)
Date Established
1970/01/01
Date of Entry
1999/01/01
Revision Date
2021/06/30
Androgen-Insensitivity Syndrome Preferred
Reifenstein Syndrome Narrower
Testicular Feminization Narrower
Androgen Receptor Deficiency Related
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