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Disease Androgen-Insensitivity Syndrome

Name Androgen-Insensitivity Syndrome
Synonyms AIS | Androgen Insensitivities, Partial | Androgen Insensitivity, Partial | ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER | Androgen Insensitivity Syndrome | Androgen Insensitivity Syndrome, Complete | Androgen-Insensitivity Syndrome, Complete | Androgen Insensitivity Syndrome, Partial | Androgen-Insensitivity Syndrome, Partial | Androgen Insensitivity Syndromes | Androgen-Insensitivity Syndromes | Androgen-Insensitivity Syndromes, Complete | Androgen-Insensitivity Syndromes, Partial | Androgen Receptor Deficiencies | Androgen Receptor Deficiency | Androgen Resistance Syndrome | Androgen Resistance Syndromes | AR Deficiencies | AR Deficiency | Complete Androgen-Insensitivity Syndrome | Complete Androgen-Insensitivity Syndromes | Deficiencies, Androgen Receptor | Deficiencies, AR | Deficiencies, DHTR | Deficiencies, Dihydrotestosterone Receptor | Deficiency, Androgen Receptor | Deficiency, AR | Deficiency, DHTR | Deficiency, Dihydrotestosterone Receptor | DHTR Deficiencies | DHTR Deficiency | Dihydrotestosterone Receptor Deficiencies | Dihydrotestosterone Receptor Deficiency | FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1 | Feminizations, Testicular | Feminization Syndromes, Testicular | Feminization Syndrome, Testicular | Feminization, Testicular | Insensitivities, Partial Androgen | Insensitivity, Partial Androgen | Insensitivity Syndrome, Androgen | Insensitivity Syndromes, Androgen | Male Pseudohermaphroditism Due to Androgen Insensitivity | PAIS | 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's Syndrome | Reifensteins Syndrome | Reifenstein Syndrome | Resistance Syndrome, Androgen | Resistance Syndromes, Androgen | Testicular Feminization | Testicular Feminizations | Testicular Feminization Syndrome | Testicular Feminization Syndromes | TFM
Definition 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.
Categories Congenital abnormality | Endocrine system disease | Genetic disease (inborn) | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D013734
OMIM® IDs 300068 | 312300
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Top ↑ Ancestors

1. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes 46, XY Disorders of Sex Development Has associated chemicals Has associated genes Androgen-Insensitivity Syndrome Has associated chemicals Has associated genes
2. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes 46, XY Disorders of Sex Development Has associated chemicals Has associated genes Androgen-Insensitivity Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Urogenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes 46, XY Disorders of Sex Development Has associated chemicals Has associated genes Androgen-Insensitivity Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Androgen-Insensitivity Syndrome Has associated chemicals Has associated genes
5. DiseasesEndocrine System Diseases Has associated chemicals Has associated genes Has associated exposure references Gonadal Disorders Has associated chemicals Has associated genes Has associated exposure references Disorders of Sex Development Has associated chemicals Has associated genes 46, XY Disorders of Sex Development Has associated chemicals Has associated genes Androgen-Insensitivity Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Androgen-Insensitivity Syndrome Has associated chemicals Has associated genes
  Androgen Insensitivity Syndrome due to Coactivator Deficiency
  Lubs syndrome