Guerrier D, Tran D, Vanderwinden J M, Hideux S, Van Outryve L, Legeai L, Bouchard M, Van Vliet G, De Laet M H, Picard J Y
Unité de Recherches sur l'Endocrinologie du Développement, INSERM, Hôpital des Enfants-Malades, Paris, France.
J Clin Endocrinol Metab. 1989 Jan;68(1):46-52. doi: 10.1210/jcem-68-1-46.
A rare form of male pseudohermaphroditism is characterized by the persistence of Müllerian derivatives in phenotypic males. To determine the etiology of this syndrome, we studied the expression of anti-Müllerian hormone (AMH) in six boys, including three brothers, with the persistent Müllerian duct syndrome. All except one presented with an inguinal hernia containing the Müllerian derivatives, and in two boys the hernial sac contained the contralateral testis. AMH was normally expressed in the testicular tissue of two patients, as shown by bioassay of anti-Müllerian activity and immunocytochemistry. The testicular tissue of the other patients had no detectable bioactive or immunoreactive AMH, yet they expressed AMH mRNA with a normal transcription initiation site and in the amount expected for their age. These results prove the heterogeneity of the persistent Müllerian duct syndrome and suggest that it may sometimes involve peripheral insensitivity to AMH.
一种罕见的男性假两性畸形表现为表型男性中苗勒管衍生物持续存在。为了确定该综合征的病因，我们研究了6名患有持续性苗勒管综合征的男孩（包括3名兄弟）中抗苗勒管激素（AMH）的表达情况。除1例之外，所有患者均表现为腹股沟疝，疝内容物为苗勒管衍生物，2例男孩的疝囊内含有对侧睾丸。通过抗苗勒管活性生物测定和免疫细胞化学显示，2例患者的睾丸组织中AMH正常表达。其他患者的睾丸组织未检测到生物活性或免疫反应性AMH，但他们表达的AMH mRNA具有正常的转录起始位点，且表达量与其年龄预期相符。这些结果证明了持续性苗勒管综合征的异质性，并提示该综合征有时可能涉及对AMH的外周不敏感。
