A Single Base Pair Mutation Encoding a Premature Stop Codon in the MIS Type II Receptor Is Responsible for Canine Persistent Mullerian Duct Syndrome
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چکیده
منابع مشابه
A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome.
The persistent müllerian duct syndrome, characterized by the lack of regression of müllerian derivatives, uterus and tubes in otherwise normally masculinized males, is a genetically transmitted disorder implicating either anti-müllerian hormone (AMH), a member of the transforming growth factor-beta superfamily, or its type II receptor, a serine/threonine kinase homologous to the receptors of ot...
متن کاملpersistent mullerian duct syndrome in a 71-year-old man, case report
persistent mullerian duct syndrome in a 71-year-old man, case report h. salehi md , m.r. vatani baf md received:27/06/06 sent for revision: 11/10/06 received revised manuscript: 07/02/07 accepted: 12/02/07 background and objective: normal sexual differentiation occurs in the 6th embryonic week and in a normal embryonic life. both wolffian and mullerian ducts are present until the onset of sexua...
متن کاملگزارش یک مورد نادر بیماری مادرزادی: Persistent Mullerian Duct Syndrome (PMDS) در یک آقای 71 ساله
Persistent Mullerian Duct Syndrome in a 71-Year-Old Man, Case Report H. Salehi MD , M.R. Vatani Baf MD Received:27/06/06 Sent for Revision: 11/10/06 Received Revised Manuscript: 07/02/07 Accepted: 12/02/07 Background and Objective: Normal sexual differentiation occurs in the 6th embryonic week and in a normal embryonic life. Both wolffian and mullerian ducts are present until the onse...
متن کاملPersistent mullerian duct syndrome with an irreducible inguinal hernia.
Received January 2008 Accepted October 2008 INTRODUCTION Persistent mullerian duct syndrome (PMDS), or hernia uteri inguinale, describes a group of patients with a 46,XY karyotype and normal male external genitalia, but internal mullerian duct structures. Typically, these phenotypic males have unilateral or bilateral undescended testes, bilateral fallopian tubes, a uterus, and an upper vaginal ...
متن کاملPersistent mullerian duct syndrome associated with transverse testicular ectopia.
Persistent Mullerian Duct Syndrome (PMDS) associated with transverse testicular ectopia (TTE) is rare. Ten cases have been reported in the past. Accurate diagnosis with karyotype and histological analysis is crucial. Surgical management should be geared toward preservation of fertility when possible.
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ژورنال
عنوان ژورنال: Journal of Andrology
سال: 2008
ISSN: 0196-3635
DOI: 10.2164/jandrol.108.005736