Surgical and genetic aspects of persistent müllerian duct syndrome
| Autor: | Deborah S. Loeff, Sandrine Imbeaud, Hernan M. Reyes, Ira M. Rosenthal, Janet L. Meller |
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| Rok vydání: | 1994 |
| Předmět: |
Anti-Mullerian Hormone
Male endocrine system medicine.medical_specialty Disorders of Sex Development Uterus Hernia Inguinal Internal medicine Cryptorchidism Methods medicine Humans Codon Mullerian Ducts Cervix Glycoproteins Fetus urogenital system business.industry Myometrium Infant General Medicine medicine.disease Molecular Abnormality Growth Inhibitors female genital diseases and pregnancy complications Testicular Hormones medicine.anatomical_structure Endocrinology Pediatrics Perinatology and Child Health Persistent Müllerian duct syndrome Male pseudohermaphroditism Surgery Abnormality business |
| Zdroj: | Journal of Pediatric Surgery. 29:61-65 |
| ISSN: | 0022-3468 |
| DOI: | 10.1016/0022-3468(94)90525-8 |
| Popis: | Persistent mullerian 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 mullerian structures in normal males is mediated by antimullerian hormone (AMH), also called mullerian 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 mullerian 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. |
| Databáze: | OpenAIRE |
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