scholarly journals A novel mutation of AMHR2 in two siblings with persistent Müllerian duct syndrome

2018 ◽  
Author(s):  
Edip Unal ◽  
Yusuf Kenan Haspolat ◽  
Ruken Yıldırım ◽  
Suat Tekin ◽  
Vasfiye Demir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Duct Syndrome

A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Özlem Nalbantoğlu ◽  
Korcan Demir ◽  
Hüseyin Anıl Korkmaz ◽  
Muammer Büyükinan ◽  
Melek Yıldız ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Base Substitution ◽  
Mullerian Duct ◽  
Normal Range ◽  
Müllerian Duct ◽  
Transverse Testicular Ectopia ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Testicular Ectopia ◽  
Duct Syndrome

AbstractPersistent Mullerian duct syndrome (PMDS) is a rare form of male 46,XY disorder of sex development characterized by the presence of Mullerian duct derivatives in otherwise phenotypically normal males.: To report a novel mutation of the anti-Mullerian hormone (A 2-year-old male presented with recurrent left-sided inguinal hernia and absence of right testis. Laparoscopic surgery disclosed Mullerian duct derivates and transverse testicular ectopia. AMH level was found to be low [1.6 ng/mL (normal range 7.4–373.1), 11.42 pmol/L (normal range 52.8–2663.9)]. His 15-year-old and 7-year-old elder brothers were invited, and bilateral undescended testes were noted upon examination. Female reproductive structures were identified during surgery but no transverse testicular ectopia. All cases had 46,XY karyotype. Genetic analyses could be done in two of them and a unique homozygous T to C base substitution was found at position 1591 in theThis is the first report of the

A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome

2001 ◽  
Vol 160 (11) ◽  
pp. 652-654 ◽  
Author(s):  
Mariarosaria Lang-Muritano ◽  
Anna Biason-Lauber ◽  
Christopher Gitzelmann ◽  
Corinne Belville ◽  
Yves Picard ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Duct Syndrome

A Novel Mutation of AMHR2 In Two Siblings with Persistent Müllerian Duct Syndrome

2017 ◽  
Vol 11 (5-6) ◽  
pp. 289-292 ◽  
Author(s):  
Aydilek D. Çakır ◽  
Hande Turan ◽  
Hüseyin Onay ◽  
Haluk Emir ◽  
Senol Emre ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Duct Syndrome

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings

2021 ◽  
pp. 1-6
Author(s):  
Evgenia Globa ◽  
Nataliya Zelinska ◽  
Nina Siryk ◽  
Anu Bashamboo ◽  
Kenneth McElreavey
Keyword(s):  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Normal Male ◽  
Compound Heterozygous ◽  
Mullerian Duct ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Bilateral Cryptorchidism ◽  
Duct Syndrome

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder characterized by the lack of regression of the derivatives of the Müllerian ducts in males. Boys with this condition usually present with unilateral or bilateral cryptorchidism, inguinal hernias, and reproductive disorders with normal male genitalia. Variants in the AMH or AMHR2 genes are responsible for the development of this syndrome. The genetic diagnosis and surgery in PMDS is challenging for both the endocrinologist and the urologist. Here, we describe the management of 2 siblings from 1 family who presented with bilateral cryptorchidism and hypospadias at birth. One child had testis located in the pelvis in the position of normal ovaries, while the other child had testis which were located in the inguinal canals (bilateral inguinal cryptorchidism). Exome sequencing revealed a compound heterozygous variant in the AMHR2 gene c.1388G>A, p.R463H and c.1412G>A p.R471H. To our knowledge, hypospadias has not been described in association with PMDS.

An unusual case of undescended testis: type II persistent Müllerian duct syndrome

Pathology ◽  
2019 ◽  
Vol 51 (3) ◽  
pp. 335-336
Author(s):  
Wai Chee Lo ◽  
Kwok Leung Ng ◽  
Kam Chi Teresa Tsui ◽  
Wai Yan Candy Ng ◽  
Yuet Ping Liz Yuen
Keyword(s):  
Unusual Case ◽  
Undescended Testis ◽  
Mullerian Duct ◽  
Type Ii ◽  
Müllerian Duct ◽  
Persistent Müllerian Duct Syndrome ◽  
Persistent Mullerian Duct Syndrome ◽  
Duct Syndrome
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