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Complete androgen insensitivity syndrome — SCE Endocrinology MCQ

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ModerateReproductive EndocrinologyComplete androgen insensitivity syndromeSCE Endocrinology

A 17-year-old phenotypic female has primary amenorrhoea, normal breast development and scant pubic hair. Karyotype is 46,XY and ultrasound shows absent uterus. Testosterone is in the adult male range. What is the most likely diagnosis?

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Correct answer: A — Complete androgen insensitivity syndrome

46,XY karyotype, absent uterus, female phenotype, normal breast development and scant pubic hair indicate complete androgen insensitivity. MRKH has 46,XX karyotype and normal pubic hair. Gonadal tumour risk and timing of gonadectomy require specialist DSD care.

Reference: Society for Endocrinology DSD Guidance