Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype of external genitals, associated with persistence of Müllerian structures. This report includes the presentation of a 2.5 year old male patient due to bilateral undescended testis. His karyotype was 46,XY. The increase in testosterone following human chorionic gonadotropin stimulation test was normal. The patient was referred to our clinic after uterine, fallopian tube and vaginal remnants were recognized during the orchiopexy surgery. The family reported that the eight year old elder brother of the patient was operated on for right inguinal hernia and left undescended testis at the age of one year. A right transverse testicular ectopia was found in the elder brother. Both cases had normal AMH levels. AMHR2 gene was analyzed and a homozygous NM_020547.3:c.233-1G>A mutation was found that was not identified previously. In conclusion, we determined a novel mutation in the AMHR2 gene that was identified for the first time. This presented with different phenotypes in two siblings.
Picard JY, Cate RL, Racine C, Josso N. The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases. Sex Dev 2017;11:109-125. Epub 2017 May 20
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424. Epub 2015 Mar 5
Josso N, Rey RA, Picard JY. Anti-Müllerian hormone: a valuable addition to the toolbox of the pediatric endocrinologist. Int J Endocrinol 2013;2013:674105. Epub 2013 Dec 8
Elias-Assad G, Elias M, Kanety H, Pressman A, Tenenbaum-Rakover Y. Persistent Müllerian Duct Syndrome Caused by a Novel Mutation of an Anti-Müllerian Hormone Receptor Gene: Case Presentation and Literature Review. Pediatr Endocrinol Rev 2016;13:731-740.
Hutson JM, Grover SR, O’Connell M, Pennell SD. Malformation syndromes associated with disorders of sexual development. Nat Rev Endocrinol 2014;10:476-487. Epub 2014 Jun 10
Cate RL, Mattaliano RJ, Hession C, Tizard R, Farber NM, Cheung A, Ninfa EG, Frey AZ, Gash DJ, Chow EP, Fisher RA, Bertonis JM, Torres G, Wallner BP, Ramachandran KL, Ragin RC, Manganaro TF, MacLaughlin DT, Donahoe PK. Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells. Cell 1986;45:685-698.
Cohen-Haguenauer O, Picard JY, Mattei MG, Serero S, Nguyen VC, de Tand MF, Guerrier D, Hors-Cayla MC, Josso N, Frézal J. Mapping of the gene for anti-Müllerian hormone to the short arm of human chromosome 19. Cytogenet Cell Genet 1987;44:2-6.
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: Insensitivity to anti-Müllerian hormone due to a spontaneous mutation in the human anti-Müllerian hormone receptor. Nat Genet 1995;11:382-388.
Jasso N, Picard JY, Rey R, di Clemente N. Testicular anti-Müllerian hormone: history, genetics, regulation and clinical applicat10ns. Pediatr Endocrinol Rev 2006;3:347-358.
Abduljabbar M, Taheini K, Picard JY, Cate RL, Josso N. Mutations of the AMH type II receptor in two extended families with persistent Müllerian duct syndrome: lack of phenotype/genotype correlation. Horm Res Paediatr 2012;77:291-297. Epub 2012 May 11
Bucci S, Liguori G, Buttazzi L, Bussani R, Trombetta C. Bilateral testicular carcinoma in patient with the persistent Müllerian duct syndrome. J Urol 2002;167:1790.
Farikullah J, Ehtisham S, Nappo S, Patel L, Hennayake S. Persistent Müllerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Müllerian remnants. BJU Int 2012;110:1084- 1089. Epub 2012 Apr 30
Farag TI. Familial persistent Müllerian duct syndrome in Kuwait and neighboring populations. Amer J Med Genet 1993;47:432-434.
Belville C, Josso N, Picard JY. Persistence of Müllerian derivatives in males. Am J Med Genet 1999;89:218-223.
Vandersteen DR, Chaumeton AK, Ireland K, Tank ES. Surgical management of persistent Müllerian duct syndrome. Urology 1997;49:941-945.
lmbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY. A 27 base-pair deletion of the anti-Müllerian type2 receptor gene is the most common cause of the persistent Müllerian duct syndrome. Hum Mol Genet 1996;5:1269-1277.