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A comprehensive overview of androgen insensitivity syndrome (ais), a genetic disorder affecting male hormone physiology. It delves into the causes, types, clinical features, investigations, differential diagnosis, and management of ais. How mutations in the androgen receptor gene lead to resistance to testosterone, resulting in female external genitalia despite a male genotype. It also discusses the different types of ais, including complete, partial, and mild insensitivity, and their associated clinical manifestations. The document further outlines the diagnostic procedures, including chromosomal analysis, hormone testing, and imaging studies, as well as the medical and surgical management options for ais.
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CAIS (completely insensitive to AR gene) EXTERNAL FEMALE GENITALIALACK FEMALE INTERNAL ORGANS ( SERTOLI CELL MARKERS ANTI MULLERIANHORMONE AND INHIBIN B PRESENT)
PAIS ( partially sensitive- varying degrees) EXTERNAL GENITALIA APPEARANCE ON SPECTRUM ( PHENOTYPIC WOMEN WITHMILD VIRILIZATION TO PHENOTYPIC MEN WITH UNDERVIRILIZATION ANDGYNECOMASTIA OR INFERTILITY)
MAIS (mildly sensitive) IMPAIRED SPERM DEVELOPMENT OR IMPAIRED MASCULINIZATION