Complete Androgen Insensitivity — RACP Paediatrics MCQ

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HardEndocrinologyComplete Androgen InsensitivityRACP Paediatrics

A 14-year-old girl has primary amenorrhoea, breast development (Tanner 4), absent pubic hair, karyotype 46,XY, inguinal gonads. Diagnosis?

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Correct answer: A — Complete androgen insensitivity syndrome

46,XY with female phenotype, breast development, absent pubic hair, inguinal gonads = CAIS.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: DSD