Imbeaud S, Rey R, Berta P, Chaussain J L, Wit J M, Lustig R H, De Vroede M A, Picard J Y, Josso N
Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Montrouge, France.
Eur J Pediatr. 1995 Mar;154(3):187-90. doi: 10.1007/BF01954268.
The persistent müllerian duct syndrome, characterized by the presence of uterus and tubes in males, is a familial disorder due to defects of synthesis or action of anti-müllerian hormone, a Sertoli cell glycoprotein responsible for the regression of müllerian derivatives in normal male fetuses. Patients are normally virilized and testicular production of testosterone is normal. Both testes may be cryptorchid; alternatively, one may be descended into the inguinal canal or scrotum, together with the müllerian derivatives, a condition known as "hernia uteri inguinalis". We have recently observed three patients affected by the persistent müllerian duct syndrome who experienced progressive degeneration of testicular tissue. In two, functional testicular tissue was still present some months after birth, but deteriorated progressively later. In one patient, testicular tissue was already absent at birth, but the normal virilization of external genitalia indicated that testicular degeneration must have occurred late during fetal life, after the expected time of regression of male müllerian ducts.
The high incidence of degeneration of testicular tissue in the persistent müllerian duct syndrome could be indirectly linked to anatomical abnormalities which could favour testicular torsion, known to induce testicular regression.
持续性苗勒管综合征的特征是男性体内存在子宫和输卵管，它是一种家族性疾病，病因是抗苗勒管激素（一种支持细胞糖蛋白，负责正常男性胎儿中苗勒管衍生物的退化）的合成或作用缺陷。患者通常具有男性化特征，睾丸睾酮分泌正常。双侧睾丸可能均为隐睾；或者，一侧睾丸连同苗勒管衍生物可降至腹股沟管或阴囊内，这种情况称为“腹股沟子宫疝”。我们最近观察到3例持续性苗勒管综合征患者，其睾丸组织出现进行性退化。其中2例在出生后数月仍存在功能性睾丸组织，但随后逐渐恶化。1例患者出生时睾丸组织就已缺失，但外生殖器正常男性化表明睾丸退化一定发生在胎儿期晚期，即在男性苗勒管预期退化时间之后。
持续性苗勒管综合征中睾丸组织退化的高发生率可能与解剖学异常间接相关，这种异常可能会导致已知可引起睾丸退化的睾丸扭转。
