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.

Prostatic adenocarcinoma in a patient with persistent Müllerian duct syndrome

“…PMDS is caused by genetic defects hallmarked by the deletion of the gene encoding the AMH or its receptors that is usually inherited as an autosomal recessive trait. [ 3 4 5 8 ] Of note, it has previously been reported in literature Wolffian duct derivatives abnormalities, such as opening of vas deferens into the superior vagina, and narrowing or absence of Wolffian duct derivatives. [ 3 ] Interestingly, the seminal vesicles were embedded in the endocervical canal in this case and the Müllerian derivatives are in close proximity to the prostate, seminal vesicles, and vas deferens as evidenced on histopathological examination.…”

“…Bilateral or unilateral inguinal hernias, with or without testicular ectopia, are quite common findings. [ 5 ] The hallmark of internal genitalia phenotype is persistence of derivatives of the Müllerian ducts (fallopian tubes, uterus, cervix, and upper vagina) that normally regress in males under the influence of androgens (mainly testosterone) and AMH. The testes are developed normally however can be located anywhere from the retroperitoneum to the scrotum.…”

“…Patients are phenotypically male and usually present with unilateral or bilateral cryptorchid testes. [ 4 5 ] The testes can be located anywhere from the retroperitoneum to the scrotum; cryptorchidism and transverse testicular ectopia have been associated with this condition. [ 5 ] Internal genitalia, however, consist of structures that are derived from the persistence of the Müllerian ducts, i.e., fallopian tubes, uterus, cervix, and upper vagina.…”

“…[ 4 5 ] The testes can be located anywhere from the retroperitoneum to the scrotum; cryptorchidism and transverse testicular ectopia have been associated with this condition. [ 5 ] Internal genitalia, however, consist of structures that are derived from the persistence of the Müllerian ducts, i.e., fallopian tubes, uterus, cervix, and upper vagina. [ 6 7 ] Familial cases have been reported with a probability of sex-limited autosomal recessive or X-linked recessive inheritance.…”