Diseases

Androgen-Insensitivity Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

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MeSH Record

Synonyms

57 entry terms
  • Androgen Insensitivity Syndrome
  • Androgen Resistance Syndrome
  • Male Pseudohermaphroditism Due to Androgen Insensitivity
  • Androgen Insensitivity Syndromes
  • Androgen Resistance Syndromes
  • Androgen-Insensitivity Syndromes
  • Insensitivity Syndrome, Androgen
  • Insensitivity Syndromes, Androgen
  • Resistance Syndrome, Androgen
  • Resistance Syndromes, Androgen
  • AR Deficiency
  • Androgen Insensitivity, Partial
  • Androgen Receptor Deficiency
  • Androgen-Insensitivity Syndrome, Complete
  • Androgen-Insensitivity Syndrome, Partial
  • DHTR Deficiency
  • Dihydrotestosterone Receptor Deficiency
  • Reifenstein Syndrome
  • Reifenstein's Syndrome
  • Testicular Feminization
  • Testicular Feminization Syndrome
  • AR Deficiencies
  • Androgen Insensitivities, Partial
  • Androgen Insensitivity Syndrome, Complete
  • Androgen Insensitivity Syndrome, Partial
  • Androgen Receptor Deficiencies
  • Androgen-Insensitivity Syndromes, Complete
  • Androgen-Insensitivity Syndromes, Partial
  • Complete Androgen-Insensitivity Syndrome
  • Complete Androgen-Insensitivity Syndromes
  • DHTR Deficiencies
  • Deficiencies, AR
  • Deficiencies, Androgen Receptor
  • Deficiencies, DHTR
  • Deficiencies, Dihydrotestosterone Receptor
  • Deficiency, AR
  • Deficiency, Androgen Receptor
  • Deficiency, DHTR
  • Deficiency, Dihydrotestosterone Receptor
  • Dihydrotestosterone Receptor Deficiencies
  • Feminization Syndrome, Testicular
  • Feminization Syndromes, Testicular
  • Feminization, Testicular
  • Feminizations, Testicular
  • Insensitivities, Partial Androgen
  • Insensitivity, Partial Androgen
  • 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
  • Reifensteins Syndrome
  • Testicular Feminization Syndromes
  • Testicular Feminizations

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

check the tag MALE

MeSH Record

History Note

2002(1968)

MeSH Record

Previous Indexing

  • Sex Differentiation Disorders (1966-1967)

MeSH Hierarchy

Tree Numbers

MeSH Record

NLM Classification

WJ 101

AMA Style

References

  1. National Library of Medicine. Androgen-Insensitivity Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D013734. http://id.nlm.nih.gov/mesh/2026/D013734
  2. Androgen-Insensitivity Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome
  3. Androgen-Insensitivity Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q512313