Abstract

Objective To explore the clinic diagnostic features of complete androgen insensitivity syndrome (CAIS). Methods The medical records of two patients with CAIS and the relevant literatures were retrospectively reviewed. Results Both patients were treated as primary amenorrhea.They had a female phenotype with normal external genitalia, normal breast development, and little axillary and pubic hair.The digital vaginal examination revealed a short and blind-ended vagina.An ultrasound (US) exam showed no uterus and ovary.Computed tomography (CT) showed masses on both sides of groin.Follide-stimulating hormone (FSH) and luteinizing hormone (LH) level increased in case 1 and LH level increased in case 2.They had a karyotype of 46, XY and SRY gen, and the masses on both sides of groin were testicular tissue. Conclusions For patients with primary amenorrhea, blind-ended vagina, no uterus and ovary, chromosome exam and SRY genetic testing are essential for diagnosis of complete androgen insensitivity syndrome. Key words: Disorders of sex development; Receptors, androgen; Diagnosis

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