46,XY pure gonadal dysgenesis with non‐fluorescent Y chromosome

Abstract

A 46,XY karyotype with a non-fluorescent Y chromosome was found in an infantile girl aged 16 with primary amenorrhea. Identification of the Y chromosome was made by different staining techniques and a photometric scanning method. The histology of the streak gonad also indicated the Y character of the chromosome. The authors' interpretation is a 46,XY pure gonadal dysgenesis with a non-fluorescent Y chromosome.