Background: Anti-Mullerian hormone (AMH), secreted by immature Sertoli cells, provokes the regression of male fetal Mullerian ducts. Loss of function mutations in genes coding AMH (AMH) or its receptor (AMHRII) lead to the persistent Mullerian duct syndrome (PMDS) which is characterized by the presence of uterus, fallopian tubes, cervix and vagina in otherwise normally virilized 46,XY males. Typical clinical features along with plasma AMH levels and genotyping establish the diagnosis of PMDS. However, surgical management and long-term follow up of these patients is challenging.
Case reports: We present 4 cases with PMDS presented with a cryptorchidism and inguinal hernia (Table). Inguinal exploration for cryptorchidism or inguinal hernia by laparoscopy revealed incidental findings of Mullerian remnants. Biopsies taken from gonads in each patient revealed testicular tissue with a variable degree of immaturity. The biopsy of Mullerian remnants did not reveal any malignancy. All patients were genotypically male. Clinical and genetic characterization of the patients is presented in Table. We opted a single stage laparotomy to split the fundus of the uterus in the midline to release testes and to avoid damaging vas deferens or the deferential artery during orchidopexy. The postoperative course was uneventful.
|Patient||Age of presentation||Signs/symptoms at presentation||Other anomalies||FSH (mIU/mL)||AMH concentration||Gene/mutation||Reference|
|I||26 days||Bilateral inguinal hernia, bilateral cryptorchidism||-||2.47||<0.1 ng/ml (45-266)||AMH c.G301A, p.(Gly101Arg) (homozygous)||*Three families from West Turkey, Pakistan and India|
|2||8 yr 9 mos||Unilateral inguinal hernia, bilateral cryptorchidism||-||0.8||138.5 ng/ml (33-60.2)||AMHRII c.1510C>T, p.(Arg504Cys) (homozygous)||*Two PMDS patients from Germany and Italy|
|3||1 yr 6 mos||Bilateral inguinal hernia, bilateral cryptorchidism||-||0.46||0.02 ng/ ml (45-266)||AMH c.1577C>T, p.(Cys526Phe) (homozygous)||novel|
|4||3 yrs 8 mos||Bilateral inguinal hernia, bilateral cryptorchidism||-||2.88||0,02 ng/ml (45-266)||AMH c.1673G>A, p.(Gly558Asp) (homozygous)||novel|
|*Picard JY, et al. Sex Dev 2017;11:109125|
Conclusion: PMDS serves as a remarkable management dilemma due to 2 main complications namely infertility and cancer. The surgeon should bear in mind that a cryptorchidism and inguinal hernia in presence of Mullerian duct structures in male phenotypes should suggest PMDS. The management of PMDS cases is far more complicated than the ones with isolated cryptorchidism and/or an inguinal hernia. Long-term reproductive and endocrinological surveillance is warranted.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology