[Molecular biology of the persistent Müllerian duct syndrome]
[Article in
French]
Affiliations
- PMID: 8998503
Item in Clipboard
[Molecular biology of the persistent Müllerian duct syndrome]
[Article in
French]
Contracept Fertil Sex.
1996 Sep.
Abstract
The persistent Müllerian duct syndrome, characterized by the presence of uterus and tubes in otherwise normally masculinized 46,XY males, is a familial autosomal recessive disorder due to defects of synthesis or action of anti-Müllerian hormone. We have performed molecular studies in a total of 38 families and we have identified the basis of the condition, namely 16 anti-Müllerian hormone and 16 anti-Müllerian hormone receptor mutations, in 32 families.
Similar articles
-
[Genetics and molecular pathology of anti-Mullerian hormone and its receptor].J Soc Biol. 2002;196(3):217-21. J Soc Biol. 2002. PMID: 12462075 Review. French.
-
Anti-Müllerian hormone receptor defect.Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):599-610. doi: 10.1016/j.beem.2006.09.004. Best Pract Res Clin Endocrinol Metab. 2006. PMID: 17161334 Review.
-
Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.Arch Gynecol Obstet. 2004 May;269(4):270-3. doi: 10.1007/s00404-002-0456-7. Epub 2002 Dec 19. Arch Gynecol Obstet. 2004. PMID: 15221321
-
A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome.Eur J Pediatr. 2001 Nov;160(11):652-4. doi: 10.1007/s004310100840. Eur J Pediatr. 2001. PMID: 11760020
-
Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor.Nat Genet. 1995 Dec;11(4):382-8. doi: 10.1038/ng1295-382. Nat Genet. 1995. PMID: 7493017