Abstract
Persistent Müllerian duct syndrome was diagnosed at surgery for inguinal hernia and/or bilateral cryptorchidism in 6 otherwise normal XY boys aged 2 mos to 7 yrs, including 3 brothers. In two cases, the inguinal hernia contained the uterus and tubes, tightly attached to both testes. In the other patients, the hernial sac contained initially only the homolateral testis and tube, but gentle traction exteriorized the uterus and contralateral testis, suggesting that, in this syndrome, testicular position depends on the location of the fallopian tube. Testicular biopsies were studied by immunohistochemistry using a polyclonal antibody specific for anti-Müllerlan hormone (AMH), and by AMH bioassay, using the rat fetal Müllerian duct as target organ. In normal boys, immunohistochemistry detects AMH up to 6 yrs (Tran & all., 1987). In 4 patients from 2 sibships, both techniques gave negative results, indicating that persistence of Müllerian derivates resulted from AMH deficiency. In two unrelated cases, however, immunoreactive AMH was present, and biologically active, suggesting either target organ insensitivity to AMH or fetal testicular AMH production starting after the end of the AMH-sensitive window of Müllerian development. We conclude that the persistent Müllerian duct syndrome is etiologically heterogeneous and may therefor follow different patterns of inheritance.
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Vanderwinden, J., Hideux, S., Van Outryve, L. et al. 141 STUDY OF TESTICULAR ANTI-MULLERIANHORMONE IN PERSISTENT MULLERIAN DOCT SYNDROME. Pediatr Res 24, 540 (1988). https://doi.org/10.1203/00006450-198810000-00162
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DOI: https://doi.org/10.1203/00006450-198810000-00162