Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation
نویسندگان
چکیده
منابع مشابه
Transverse Testicular Ectopia: A Rare Presentation with Persistent Müllerian Duct Syndrome
Undescended testes can be found in the inguinal channel or in the abdomen. Rarely, undescended testes can present with transverse testicular ectopia (TTE) and very rarely, with residual Müllerian duct (MD) structures. This latter presentation is called persistent MD syndrome (PMDS). PMDS is mostly discovered during surgery for inguinal hernia or cryptorchidism. TTE is a rare congenital anomaly ...
متن کاملPersistent müllerian duct syndrome: report of two boys with associated transverse testicular ectopia.
Persistent mullerian duct syndrome (PMDS) is an unusual form of male pseudohermaphroditism characterized by the presence of a uterus and fallopian tubes in an otherwise differentiated male with a 46XY karyotype. Since the first report in 1939, approximately 150 new cases have been reported. Most refer to isolated cases, while a few involve siblings. Transverse testicular ectopia (TTE) is a rare...
متن کاملPersistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene.
BACKGROUND AND OBJECTIVE Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT A 4-month-old male presented with bilater...
متن کاملAnalysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.
OBJECTIVE To screen for mutations in AMH and AMHR2 genes in patients with persistent Müllerian duct syndrome (PMDS). PATIENTS AND METHOD Genomic DNA of eight patients with PMDS was obtained from peripheral blood leukocytes. Directed sequencing of the coding regions and the exon-intron boundaries of AMH and AMHR2 were performed. RESULTS The AMH mutations p.Arg95*, p.Arg123Trp, c.556-2A>G, an...
متن کاملPersistent Müllerian Duct Syndrome (PMDS) with testicular seminoma.
Persistent Mullerian Duct Syndrome (PMDS) is characteristically associated with unilateral or bilateral cryptoorchidism. Like other undescended testis, these gonads are at an increased risk of malignant transformation. We report a case of intra abdominal seminoma in cryptorchid testis of a patient with the Persistent Mullerian Duct Syndrome, hitherto uncommonly reported in India.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2017
ISSN: 1308-5727
DOI: 10.4274/jcrpe.4058