Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism

Abstract

Persistent Mullerian duct syndrome (PMDS) is a rare syndrome and sometimes the cause of a common problem in paediatric and surgical practice, namely undescended testes. PMDS is a recessive disease in which there is a defect in anti-Mullerian hormone secretion or receptor activity resulting in persistence of Mullerian structures such as a uterus or fallopian tubes with otherwise normal virilisation. Here the authors present a case of a 1½-year-old boy who was referred to their hospital because of unilateral cryptorchidism. During laparoscopic surgery, two gonads were present joined together by a uterus-like structure. Additional investigations showed a normal male karyotype and biopsies of the gonads revealed infantile testis parenchyma making the diagnosis PMDS likely.

Figure 1

(A, B) During laparoscopy the gonads where found to be joined together by a uterus-like structure (middle of the picture, one of the gonads is shown at the right side).

Figure 2

During normal male sexual differentiation Mullerian structures regress under the influence of AMH. In patients with PMDS failure of normal regression of the Mullerian structures results in normal masculine virilisation with the presence of Mullerian derivates (picture by R. Slagter).