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    Glossary Androgen Insensitivity Syndrome

    genetic condition causing resistance to male hormones in XY individuals

    Androgen Insensitivity Syndrome (AIS) is a genetic condition where a person who is genetically male (with one X and one Y chromosome) is resistant to male hormones called androgens. As a result, the person has some or all of the physical traits of a woman, but the genetic makeup of a man. This can lead to a range of physical manifestations, from completely typical female external genitalia to ambiguous genitalia, depending on the degree of insensitivity.

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    1. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
    2. Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization) Journal of The European Academy of Dermatology and Venereology · 2004 · 22 citations
    3. Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome Endocrine journal · 2008 · 3 citations
    4. Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome Steroids · 2019 · 1 citations
    5. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019 · 1 citations
    6. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    7. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
    8. Androgen Receptors and Keloid Treatment in Children: Insights on Androgen Insensitivity Syndrome Journal of Neonatal Surgery · 2025
    9. Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review Endocrinología y nutrición · 2015
    10. Female pattern hair loss in complete androgen insensitivity syndrome British Journal of Dermatology · 2010 · 54 citations
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    Community 1 of 345

    1. Fun thought experiment about halting hair loss permamently Reddit · 6 May 2024
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