Bugrul Fuat, Abali Zehra Yavas, Kirkgoz Tarik, Cerit Kivilcim K, Canmemis Arzu, Turan Serap, Tugtepe Halil, Picard Jean-Yves, Bereket Abdullah, Guran Tulay
Sex Dev. 2019;13(5-6):264-270. doi: 10.1159/000510466. Epub 2020 Sep 19.
Homozygous loss of function mutations in genes encoding anti-Müllerian hormone (AMH) or its receptor (AMHRII) lead to persistent Müllerian duct syndrome (PMDS). PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper vagina in fully virilised 46,XY males. Both surgical management and long-term follow-up of these patients are challenging. Four cases with PMDS presented with cryptorchidism and inguinal hernia, and laparoscopic inguinal exploration revealed Müllerian remnants. Three of the patients had homozygous mutations in the AMH gene, one with a novel c.1673G>A (p.Gly558Asp) mutation, and one patient had an AMHRII mutation. All patients underwent a single-stage laparotomy in which the fundus of the uterus was split along the midline to release testes and to avoid damaging the vas deferens or the deferential artery. Biopsy of Müllerian remnants did not reveal any malignancy. The cases presented here expand the clinical and molecular presentation of PMDS. Cryptorchidism and inguinal hernia in the presence of Müllerian structures in an appropriately virilised 46,XY individual should suggest PMDS. Long-term reproductive and endocrinological surveillance is necessary.
编码抗苗勒管激素（AMH）或其受体（AMHRII）的基因发生纯合功能丧失突变会导致持续性苗勒管综合征（PMDS）。PMDS的特征是在完全男性化的46,XY男性中存在子宫、输卵管、子宫颈和上阴道。这些患者的手术管理和长期随访都具有挑战性。4例PMDS患者表现为隐睾和腹股沟疝，腹腔镜腹股沟探查发现苗勒管残余物。其中3例患者的AMH基因存在纯合突变，1例有新的c.1673G>A（p.Gly558Asp）突变，1例患者有AMHRII突变。所有患者均接受了一期剖腹手术，术中沿子宫底中线切开以释放睾丸，并避免损伤输精管或输精管动脉。苗勒管残余物活检未发现任何恶性病变。本文报道的病例扩展了PMDS的临床和分子表现。在适当男性化的46,XY个体中，存在苗勒管结构的隐睾和腹股沟疝应提示PMDS。长期的生殖和内分泌监测是必要的。
