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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
    11. An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome IJEM case reports · 2023
    12. A Case of Hair Regrowth in a Patient with Complete Androgen Insensitivity Syndrome and Female Pattern Hair Loss Journal of clinical and cosmetic dermatology · 2020
    13. Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome International Journal of Dermatology · 2015 · 5 citations
    14. Molecular basis of androgen insensitivity Molecular and Cellular Endocrinology · 2001 · 309 citations
    15. The Molecular Basis of Androgen Insensitivity Hormone Research in Paediatrics · 2000 · 25 citations
    16. Molecular genetics of androgen insensitivity Adolescent and pediatric gynecology · 1995
    17. SAT-213 Late Diagnosis of Complete Androgen Insensitivity Journal of the Endocrine Society · 2019
    18. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. UNC Libraries · 2020 · 32 citations
    19. Molecular basis of androgen receptor diseases Annals of Medicine · 2000 · 93 citations
    20. Androgen receptors and their biology Vitamins and hormones · 2001 · 66 citations
    21. THE FIBROBLAST AS A MODEL FOR ANDROGEN RESISTANT STATES Clinical Endocrinology · 1988 · 29 citations
    22. Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease Endocrine Related Cancer · 2019 · 25 citations
    23. Structural perspectives on the androgen receptor, the elusive shape-shifter Steroids · 2024
    24. Androgen Signaling in Sertoli Cells theses.fr (ABES) · 2014
    25. Modulation of Androgen Receptor Transcriptional Activity RePub (Erasmus University Rotterdam) · 2009
    26. Allosteric interactions prime androgen receptor dimerization and activation bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 1 citations
    27. Abordagens psicológicas e novas terapêuticas perante as escolhas do paciente portador da Síndrome de Morris Brazilian Journal of Health Review · 2022
    28. SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor Journal of the Endocrine Society · 2019
    29. Disorders linked to insufficient androgen action in male children 2001
    30. Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. The Journal of Clinical Endocrinology & Metabolism · 1996 · 78 citations