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Complete androgen insensitivity syndrome in a Saudi adolescent Girl: A case report

Afnan A Bahamim, Noor S Bawahab, Abdulmoein E Al-Agha*

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder, resulting in impaired development of male physical traits. Human genital virilization occurs between 8 and 14 weeks of gestation and is compromised by defects in androgen secretion or functioning androgen receptors. CAIS occurs in an estimated 1 in 20,000 to 64,000 newborn males. We report the case of a 16-year-old female with an XY karyotype, presenting with primary amenorrhea and external female phenotype genitalia. Magnetic resonance imaging confirmed the absence of female internal genital organs and the presence of bilateral inguinal testes. Serum testosterone levels were within the normal range for males. The patient was diagnosed with CAIS. Many more cases need to be studied for a better understanding and awareness of the condition. Prenatal screening for ambiguous genitalia and imaging for suspected cases at birth are critical to address future physiological and psychiatric issues.