Classification conundrum: Persistent mullerian duct syndrome with hypospadias

Abstract

The disorders of sex development (DSD) are uncommon and have wide phenotypic variation. Due to this, they often cannot be classified properly and go unreported. This case is an 18-month-old child with penoscrotal hypospadias with bilateral undescended testes. The karyotyping was 46 XY. Serum testosterone and progesterone were normal. Histopathological examination showed the right gonad with few testicular tubules containing sertoli cells and fibro-collagenization of the stroma. The left Mullerian structures showed epididymis with fallopian tube, with absent testis. Persistent Mullerian duct with hypospadias is a rare anomaly, not classifiable under any of the 46 XY DSD. The possible genesis of this unique case is due to markedly reduced sertoli cells producing low levels of anti-Mullerian hormone which led to the failure of regression of Mullerian duct structures. The associated hypospadias is probably because of impaired action of testosterone possibly due to the deficiency of 5β reductase enzyme.

Keywords

• Hypospadias
• Mullerian
• pseudohermaphroditism