| Descriptor English: | Androgen-Insensitivity Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Resistencia Androgénica
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| Descriptor Portuguese: | Síndrome de Resistência a Andrógenos | ||||||
| Descriptor French: | Syndrome d'insensibilité aux androgènes | ||||||
| Entry term(s): |
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 |
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| 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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D013734 | ||||||
| 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. |
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| Annotation: | check the tag MALE |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Sex Differentiation Disorders (1966-1967) |
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| Public MeSH Note: | 2002; see TESTICULAR FEMINIZATION (1970-2001) |
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| History Note: | 2002(1968) |
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| DeCS ID: | 14113 | ||||||
| Unique ID: | D013734 | ||||||
| NLM Classification: | WJ 712 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1970/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Androgen-Insensitivity Syndrome
- Preferred
Reifenstein Syndrome
- Narrower
Testicular Feminization
- Narrower
Androgen Receptor Deficiency
- Related but not broader or narrower
| 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. |
| Preferred term | Androgen-Insensitivity Syndrome |
| Entry term(s) |
Androgen Insensitivity Syndrome Androgen Insensitivity Syndromes Androgen Resistance Syndrome Androgen Resistance Syndromes Androgen-Insensitivity Syndromes Insensitivity Syndrome, Androgen Insensitivity Syndromes, Androgen Male Pseudohermaphroditism Due to Androgen Insensitivity Resistance Syndrome, Androgen Resistance Syndromes, Androgen |
| 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. |
| Preferred term | Reifenstein Syndrome |
| Entry term(s) |
Androgen Insensitivities, Partial Androgen Insensitivity Syndrome, Partial Androgen Insensitivity, Partial Androgen-Insensitivity Syndrome, Partial Androgen-Insensitivity Syndromes, Partial Insensitivities, Partial Androgen Insensitivity, Partial Androgen Partial Androgen Insensitivities Partial Androgen Insensitivity Partial Androgen-Insensitivity Syndrome Partial Androgen-Insensitivity Syndromes Reifenstein's Syndrome Reifensteins Syndrome |
| Concept UI |
M0369550 |
| Scope note | A disorder also known as complete androgen insensitivity syndrome (CAIS). The 46,XY genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype. |
| Preferred term | Testicular Feminization |
| Entry term(s) |
Androgen Insensitivity Syndrome, Complete Androgen-Insensitivity Syndrome, Complete Androgen-Insensitivity Syndromes, Complete Complete Androgen-Insensitivity Syndrome Complete Androgen-Insensitivity Syndromes Feminization Syndrome, Testicular Feminization Syndromes, Testicular Feminization, Testicular Feminizations, Testicular Testicular Feminization Syndrome Testicular Feminization Syndromes Testicular Feminizations |
| Concept UI |
M0535550 |
| Preferred term | Androgen Receptor Deficiency |
| Entry term(s) |
AR Deficiencies AR Deficiency Androgen Receptor Deficiencies 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 Receptor Deficiencies, Androgen Receptor Deficiencies, Dihydrotestosterone Receptor Deficiency, Androgen Receptor Deficiency, Dihydrotestosterone |
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