Abstract
Müllerian agenesis, also named the Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) or vaginal aplasia, is the second most common cause of primary amenorrhea. It is characterized by the congenital absence of the Müllerian structures including the Fallopian tubes, the uterus, and the internal portion of the vagina in an otherwise normally feminized 46,XX subject. Most cases are sporadic in inheritance, but the occurrence of some patients with chromosomal translocations or even familial aggregates suggest a genetic basis for the disease, although the etiology of the disease is still unknown. It has been suggested that activating mutations in the anti-Müllerian hormone (AMH) or in its receptor (AMHRII) are potential sources for the defect. In this study we describe the molecular analysis of both the AMH and AMHR genes in a group of 15 patients with Müllerian agenesis. After sequencing all exons and exon/intron junctions of both genes, we were not able to detect any deleterious mutation. Five new polymorphisms, 2 of them in the AMHRII gene and 3 of them in the AMH gene, were identified. No significant differences between patients and controls were observed in the frequency of a given polymorphism. This work reinforces the view that ...Continue Reading
Citations
Feb 23, 2013·ISRN Obstetrics and Gynecology·Alfonsa PizzoDomenico Puzzolo
Aug 21, 2013·Orphanet Journal of Rare Diseases·Maria SandbackaKristiina Aittomäki
Nov 26, 2013·Reproductive Biomedicine Online·Man WangShixuan Wang
Nov 4, 2008·Journal of Assisted Reproduction and Genetics·Juliana B DrummondLuiz De Marco
Jun 16, 2015·PloS One·Wenqing MaShixuan Wang
Feb 14, 2007·The Journal of Urology·Naziha Khen-DunlopClaire Nihoul-Fekete
Dec 5, 2014·Birth Defects Research. Part C, Embryo Today : Reviews·Romina P Grinspon, Rodolfo A Rey
Oct 24, 2009·Obstetrical & Gynecological Survey·Panagiotis ChristopoulosGeorge Creatsas
Jul 5, 2005·Obstetrical & Gynecological Survey·Millie BeheraThomas M Price
Nov 15, 2005·Human Reproduction·Peter OppeltMatthias W Beckmann
Nov 20, 2004·Human Reproduction·P OppeltR Strick
May 10, 2005·Human Reproduction Update·Nathalie JossoJean-Yves Picard
Aug 21, 2020·Orphanet Journal of Rare Diseases·Morten Krogh HerlinMats Brännström
Sep 18, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Cristina GervasiniMonica Miozzo
May 15, 2015·Clinical Dysmorphology·Faustina LalattaLuigi Fedele
Jul 1, 2014·American Journal of Medical Genetics. Part a·Morten HerlinMichael B Petersen
Oct 8, 2016·Clinical Genetics·L FontanaM Miozzo
Jun 9, 2016·American Journal of Medical Genetics. Part a·Adeline JacquinetAnna Lehman
Jan 5, 2021·Human Reproduction Update·Marwan HabibaGiuseppe Benagiano