Loeff D S, Imbeaud S, Reyes H M, Meller J L, Rosenthal I M
Department of Surgery, Cook County Hospital, Chicago, IL 60612.
J Pediatr Surg. 1994 Jan;29(1):61-5. doi: 10.1016/0022-3468(94)90525-8.
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, cervix, and fallopian tubes in an otherwise normally differentiated 46.XY male. During embryogenesis, regression of müllerian structures in normal males is mediated by antimüllerian hormone (AMH), also called müllerian inhibiting substance (MIS), produced by fetal Sertoli's cells. PMDS has been attributed to deficient AMH activity or to abnormalities in the AMH receptor. The authors report on two patients with PMDS in whom the abnormalities were discovered during surgery for inguinal hernia and cryptorchidism. During the initial operations in each case, testicular biopsies were obtained, and the gonads and müllerian elements were replaced in the pelvis. A second operative procedure, performed several months later, included proximal salpingectomies with dissection of the vasa deferentia on pedicles of myometrium. This permitted excision of the vestigial uterine corpus, leaving a tiny remnant of cervix with the vasa deferentia. The testes were further mobilized so that bilateral orchidopexies could be completed. In the first case, a molecular abnormality was present at position 377 of the first exon of the AMH gene. Thymine replaced cytosine, which altered a CGG arginine codon to a TGG tryptophan codon, rendering the AMH molecule unstable. The molecular abnormality in the first case differs from the first abnormality in AMH reported by Knebelmann et al, thus indicating heterogeneity in this condition. The molecular basis for deficient AMH activity in the second patient has not yet been defined. No molecular abnormalities were found in the exons of this patient's AMH gene.
持续性苗勒管综合征（PMDS）的特征是在其他方面正常分化的46,XY男性体内存在子宫、宫颈和输卵管。在胚胎发育过程中，正常男性苗勒管结构的退化由抗苗勒管激素（AMH，也称为苗勒管抑制物质[MIS]）介导，该激素由胎儿支持细胞产生。PMDS被认为是由于AMH活性不足或AMH受体异常所致。作者报告了两名PMDS患者，他们的异常情况是在腹股沟疝和隐睾手术中发现的。在每例患者的初次手术中，均获取了睾丸活检组织，并将性腺和苗勒管成分放回盆腔。数月后进行的第二次手术包括近端输卵管切除术，并在子宫肌层蒂上分离输精管。这样可以切除残留的子宫体，仅留下一小部分宫颈和输精管。进一步游离睾丸，以便完成双侧睾丸固定术。在第一例中，AMH基因第一个外显子的第377位存在分子异常。胸腺嘧啶取代了胞嘧啶，这将一个CGG精氨酸密码子改变为TGG色氨酸密码子，使AMH分子不稳定。第一例中的分子异常与Knebelmann等人报道的AMH的首例异常不同，这表明该疾病存在异质性。第二例患者AMH活性不足的分子基础尚未明确。在该患者AMH基因的外显子中未发现分子异常。
