Persistence of mullerian derivatives in males

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 89, Issue 4, 1999, Pages 218-223

  Belville, Corinne ^b   Josso, Nathalie ^a   Picard, Jean Yves ^b  

^a ECOLE NORMALE SUPÉRIEURE   (France)

^b NONE

Author keywords

Anti mullerian hormone; Intersex; Mullerian inhibiting substance; Mutations; Persistent mullerian duct syndrome

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; GENE EXPRESSION; GENE MUTATION; HERMAPHRODITISM; HUMAN; MALE; MASCULINITY; MUELLERIAN DUCT; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; REVIEW; SINGLE STRAND CONFORMATION POLYMORPHISM; VIRILIZATION; BIOSYNTHESIS; CONGENITAL MALFORMATION; FAMILY; GENETIC SCREENING; GENETICS; GENITAL SYSTEM DISEASE; HOMOZYGOTE; METABOLISM; MUTATION; RECESSIVE GENE; SERTOLI CELL;

GLYCOPROTEIN; GROWTH INHIBITOR; MULLERIAN INHIBITING HORMONE; MULLERIAN INHIBITING SUBSTANCE RECEPTOR; MULLERIAN-INHIBITING HORMONE; MULLERIAN-INHIBITING SUBSTANCE RECEPTOR; RECEPTOR; TESTIS PEPTIDE HORMONE;

FAMILY; GENES, RECESSIVE; GENETIC SCREENING; GENITAL DISEASES, MALE; GLYCOPROTEINS; GROWTH INHIBITORS; HOMOZYGOTE; HUMANS; MALE; MULLERIAN DUCTS; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, PEPTIDE; SERTOLI CELLS; TESTICULAR HORMONES;

EID: 0033616218     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991229)89:4<218::AID-AJMG6>3.0.CO;2-E     Document Type: Review

References (31)

1. Baarends WM, van Helmond MJL, Post M, van dor Schoot PCJM, Hoogerbrugge JW, de Winter JP, Uilenbroek JTJ, Karels B, Wilming LG, Meijers JHC, Themmen APN, Grootegoed JA. 1994. A novel member of the transmembrane serine/threonine kinase receptor family is specifically expressed in the gonads and in mesenchymal cells adjacent to the müllerian duct. Development 120:189-197.
2. Behringer RR, Finegold MJ, Cate RL. 1994. Müllerian-inhibiting substance function during mammlian sexual development. Cell 79:415-425.
3. Cate RL, Mattaliano RJ, Hession C, Tizard R, Farber NM, Cheung A, Ninfa EG, Frey AZ, Gash DJ, Chow EP, Fisher RA, Hertonis JM, Torres G, Wallner BP, Ramachandran KL, Ragin RG, Manganaro TF, MacLaughlin DT, Donahoe PK. 1986. Isolation ol the bovine and human genes for müllerian inhibiting substance and expression of the human gene in animal cells. Cell 45:685-698.
4. Cohen-Haguenauer O, Picard JY, Mattei MG, Serero S, Nguyen VC, de Tand MF, Guerrier D, Hors-Cayla MC, Josso N, Frézal J. 1987. Mapping ot the gene tor anti-Müllerian hormone to the short arm of human chromosome 19. Cytogenet Cell Genet 44:2-6.
5. Cooper DN, Krawczak M. 1993. Human gene mutations. Oxford: BIOS Scientific Publishers Limited, p 124.
6. di Clemente N, Goxe B, Remy JJ, Cate RL, Josso N, Vigier B, Salesse R. 1994a. Inhibitory effect of AMH upon the expression of aromatase and LH receptors by cultured granulosa cells of rat and porcine immature ovaries. Endocrine 2:553-558.
7. di Clemente N, Wilson CA, Faure E, Boussin L, Carmillo P, Tizard R, Picard JY, Vigier B, Josso N, Cate RL. 1994b. Cloning, expression and alternative splicing ot the receptor tor anti-Müllerian hormone. Mol Endocrinol 8:1006-1020.
8. Farag TI. 1993. Familial persistent müllerian duct syndrome in Kuwait and neighboring populations. Am J Med Genet 47:432-434.
9. Faure E, Gouédard L, Imbeaud S. Cate RL, Picard JY, Josso N, di Clemente N. 1996. Mutant isoforms of the anti-Müllerian hormone type II receptor are not expressed at the cell membrane. J Biol Chem 271: 30571-30575.
10. Guerrier D, Tran D, van der Winden JM, Hideux S, Van Outryve L, Legeai L, Bouchard M, van Vliet G, de Laet MH, Picard JY, Kahn A, Josso N. 1989. The persistent Müllerian duet syndrome: a molecular approach. J. Clin Endocrinol Metab 68:46-52.
11. Holliday R, Grigg GW. 1993. DNA methylation and mutation. Mutat Res 285:61-67.
12. Hutson JM, Davidson PM, Reece L, Baker ML, Zhon B. 1994. Failure or gubernacular development in the persistent Müllerian duct syndrome allows herniation of the testes. Pediatr Surg Int 9:544-546.
13. Imbeaud S. Carré-Eusèbe D, Rey R, Belville C, Josso N, Picard JY. 1994. Molecular genetics ot the persistent Müllerian duct syndrome: a study ot 19 families. Hum Mol Genet 3:125-131.
14. Imbeaud S. Faure E, Lamarre I, Mattei MG, di Clemente N, Tizard R, Carré-Eusèbe D, Belville C, Tragethon L, Tonkin C, Nelson J. McAuliffe M, Bidart JM, Lababidi A, Josso N, Cate RL, Picard JY. 1995a. Insensitivity to anti-Müllerian hormone due to a spontaneous mutation in the human anti-Müllerian hormone receptor. Nature Genet 11:382-388.
15. Imbeaud S, Rey R, Berta P, Chaussain JL, Wit JM, Lustig RH. De Vroede MAM, Picard JY, Josso N. 1995b. Progressive testicular degeneration in the persistent Müllerian duct syndrome. Eur J Pediatr 154:187-190.
16. Imbeaud S, Belville C, Messika-Zeitoun L, Rey R. di Clemente N, Josso N, Picard JY. 1996. A 27 base-pair deletion of the anti-Müllerian type II receptor gene is the most common cause of the persistent Müllerian duet syndrome. Hum Mol Genet 5:1269-1279.
17. Josso N, Picard JY, Tran D. 1977. The anti-Müllerian hormone. Recent Progr Horm Res 33:117-160.
18. Josso N, Lamarre I, Picard JY, Berta P, Davies N, Morichon N, Peschanski M, Jeny R. 1993. Anti-Müllerian hormone in early human development. Early Hum Dev 33:91-99.
19. Jost A. 1953. Problems of fetal endocrinology: the gonadal and hypophyseal hormones. Recent Progr Horm Res 8:379-418.
20. Knebelmann B, Boussin L, Guerrier D, Legeai L, Kahn A, Josso N, Picard JY. 1991. Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome. Proc Natl Acad Sci USA 88:3767-3771.
21. Lee MM, Donahoe PK, Hasegawa T, Silverman B, Crist GB, Best S, Hasegawa Y, Noto RA, Schoenfeld D, MacLaughlin DT. 1996. Müllerian inhibiting substance in humans: normal levels from infancy to adulthood. J Clin Endocnnol Metab 81:571-576.
22. Massagué J. 1998. TGF-β signal transduction. Annu Rev Biochem 67:753-791.
23. Mishima Y, Rev R, Finegold MJ, Matzuk MM, Josso N, Cate RL, Behringer RR. 1996. Genetic analysis of the Müllenan-inhibiting substance signal transduction pathway. Genes Dev 10:2577-2587.
24. Naguib KK, Teebi AS, Al-Awadi SA, El-Khalifa MY, Mahfouz ES. 1989. Familial uterine hernia syndrome: report ot an Arab family with four affected males. Am J Hum Genet 33:180-181.
25. Nishioka T, Kadowaki T, Miki T, Hanai J. 1992. Persistent Müllerian duct syndrome. Hinyokika Kiyo 38:89-92.
26. Rey R, Lordereau-Richard I, Carel JC:, Barbet P, Cate RL, Roger M, Chaussain JL, Josso N. 1993. Anti-Müllerian hormone and testosterone serum levels are inversely related during normal and precocious pubertal development. J Clin Endocrinol Metab 77: 1220-1226.
27. Rey R, Lhommé C, Marcillac I, Lahlou N, Duvillard P, Josso N, Bidart JM. 1996. Anti-Müllerian hormone as a serum marker of granulosa-cell tumors of the ovary: comparative study with serum alpha-inhibin and estradiol. Am J Obstet Gynecol 174:958-965.
28. Rey RA, Belville C, Nihoul-Fékété C, MichelCalemard L, Forest MG, Lahlou N, Jaubert F, Mowszowicz I, David M, Saka N, Bouvattier C, Bertrand AM, Lecointre C, Soskin S, Cabrol S, Crosnier H, Léger J, Lortat-Jacob S, Nicolino M, Rabl W, Toledo SPA, Bas F, Gompel A, Czernichow P, Chatelain P, Morel Y, Rappaport R, Josso N. 1999. Evaluation of gonadal function in 107 intersex patients by means of serum anti-Müllerian hormone measurement. J. Clin Endocrinol Metab 84:627-631.
29. Sloan WR, Walsh PC 1976. Familial persistent müllerian duct syndrome. J Urol 115:459-461.
30. Snow HW, Rowland RG, Seal GM, Williams SD. 1985. Testicular tumor in patient with persistent Müllerian duct syndrome. Urology 26:495-497.
31. Thompson ST, Grillis MA, Wolkoff LH, Katzin WE. 1994. Transverse testicular ectopia in a man with persistent Müllerian duct syndrome. Arch Pathol Lab Med 118:752-755.