MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Urogenital Diseases [C12]
- Female Urogenital Diseases and Pregnancy Complications [C12.050]
  - Female Urogenital Diseases [C12.050.351]
    - Urogenital Abnormalities [C12.050.351.875]
      - Disorders of Sex Development [C12.050.351.875.253]
        
        Disorder of Sex Development, 46,XY [C12.050.351.875.253.096]
        
        Androgen-Insensitivity Syndrome [C12.050.351.875.253.096.500]
        
        Denys-Drash Syndrome [C12.050.351.875.253.096.562]
        
        Frasier Syndrome [C12.050.351.875.253.096.624]
        
        Gonadal Dysgenesis, 46,XY [C12.050.351.875.253.096.687]
        
        Kallmann Syndrome [C12.050.351.875.253.096.750]
        
        WAGR Syndrome [C12.050.351.875.253.096.875]

Urogenital Diseases [C12]
- Male Urogenital Diseases [C12.200]
  - Urogenital Abnormalities [C12.200.706]
    - Disorders of Sex Development [C12.200.706.316]
      - Disorder of Sex Development, 46,XY [C12.200.706.316.096]
        
        Androgen-Insensitivity Syndrome [C12.200.706.316.096.500]
        
        Denys-Drash Syndrome [C12.200.706.316.096.562]
        
        Frasier Syndrome [C12.200.706.316.096.624]
        
        Gonadal Dysgenesis, 46,XY [C12.200.706.316.096.687]
        
        Kallmann Syndrome [C12.200.706.316.096.750]
        
        WAGR Syndrome [C12.200.706.316.096.875]

Urogenital Diseases [C12]
- Urogenital Abnormalities [C12.800]
  - Disorders of Sex Development [C12.800.316]
    - Disorder of Sex Development, 46,XY [C12.800.316.096]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Urogenital Abnormalities [C16.131.939]
    - Disorders of Sex Development [C16.131.939.316]
      - Disorder of Sex Development, 46,XY [C16.131.939.316.096]
        
        Androgen-Insensitivity Syndrome [C16.131.939.316.096.500]
        
        Denys-Drash Syndrome [C16.131.939.316.096.562]
        
        Frasier Syndrome [C16.131.939.316.096.624]
        
        Gonadal Dysgenesis, 46,XY [C16.131.939.316.096.687]
        
        Kallmann Syndrome [C16.131.939.316.096.750]
        
        WAGR Syndrome [C16.131.939.316.096.875]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Genetic Diseases, X-Linked [C16.320.322]

Endocrine System Diseases [C19]
- Gonadal Disorders [C19.391]
  - Disorders of Sex Development [C19.391.119]
    - Disorder of Sex Development, 46,XY [C19.391.119.096]

Androgen-Insensitivity Syndrome Preferred

Concept UI: M0021189
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.
Terms: Androgen-Insensitivity Syndrome Preferred Term
Term UI T040334
Date12/03/1996
LexicalTag NON
ThesaurusID; Androgen Insensitivity Syndrome
Term UI T811924
Date11/15/2011
LexicalTag NON
ThesaurusID; Androgen Resistance Syndrome
Term UI T781893
Date12/09/2010
LexicalTag NON
ThesaurusID; Male Pseudohermaphroditism Due to Androgen Insensitivity
Term UI T781892
Date12/09/2010
LexicalTag NON
ThesaurusID

Testicular Feminization Narrower

Reifenstein Syndrome Narrower

Concept UI: M0369551
Scope Note: A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE.
Terms: Reifenstein Syndrome Preferred Term
Term UI T424067
Date09/14/2000
LexicalTag EPO
ThesaurusID; Androgen Insensitivity, Partial
Term UI T812205
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Androgen-Insensitivity Syndrome, Partial
Term UI T426480
Date10/12/2000
LexicalTag NON
ThesaurusID; Reifenstein's Syndrome
Term UI T424068
Date09/14/2000
LexicalTag EPO
ThesaurusID NLM (2002)

Androgen Receptor Deficiency Related

Concept UI: M0535550
Terms: Androgen Receptor Deficiency Preferred Term
Term UI T750927
Date05/12/2009
LexicalTag NON
ThesaurusID; Dihydrotestosterone Receptor Deficiency
Term UI T811923
Date11/15/2011
LexicalTag NON
ThesaurusID; AR Deficiency
Term UI T839575
Date04/02/2013
LexicalTag ABX
ThesaurusID; DHTR Deficiency
Term UI T839576
Date04/02/2013
LexicalTag ABX
ThesaurusID

Androgen-Insensitivity Syndrome MeSH Descriptor Data 2025