A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome
Abstract Background Persistent Müllerian duct syndrome (PMDS) is defined as the presence of Müllerian duct derivatives in an otherwise normally virilized 46, XY male. It is usually caused by homozygous or compound heterozygous mutations in either the anti‐Müllerian hormone (AMH) or AMH receptor type...
Guardado en:
| Autores principales: | , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Wiley
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/62bdb091c8f64a2e938dd811d41609a5 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:62bdb091c8f64a2e938dd811d41609a5 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:62bdb091c8f64a2e938dd811d41609a52021-11-10T16:39:24ZA novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome2324-926910.1002/mgg3.1801https://doaj.org/article/62bdb091c8f64a2e938dd811d41609a52021-10-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1801https://doaj.org/toc/2324-9269Abstract Background Persistent Müllerian duct syndrome (PMDS) is defined as the presence of Müllerian duct derivatives in an otherwise normally virilized 46, XY male. It is usually caused by homozygous or compound heterozygous mutations in either the anti‐Müllerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. The main purpose of the study is to determine the novel mutations of AMHR2 in PMDS patients and their intracytoplasmic sperm injection outcomes (ICSI). Methods Whole‐exome sequencing (WES) was carried out. Sanger sequencing was used to detect mutations in AMHR2. The pathogenicity of the identified variant and its possible effects on the protein were evaluated with in silico tools. The expression level of AMHR2 was determined by Western blotting. The spermatogenic function was evaluated by testicular sperm aspiration and histopathologic examination. The ICSI outcomes were recorded. Results We present two brothers with a history of bilateral cryptorchidism with orchidopexy and infertility due to azoospermia. A novel compound heterozygous mutation of c.1219C>T [p.R407X] and c.1387C>T [p.R463C] in exons 9 and 10 of AMHR2 (NM_020547.2) was detected by whole‐exome sequencing (WES). Spermatozoon could be retrieved from the two patients by testicular aspiration following intracytoplasmic sperm injection (ICSI) due to azoospermia. Finally, patient 1 had two healthy boys and patient 2 failed to conceive after three ICSI attempts. Conclusion The spermatozoa could obtain from PMDS patients due to azoospermia. For patients with bilateral cryptorchidism, PMDS should be included in the differential diagnosis and that genetic counseling needs to be considered when they seek reproductive help.Jianzheng FangGao GaoJinyong LiuLingbo CaiYugui CuiXiaoyu YangWileyarticleAMH receptor type 2cryptorchidismintracytoplasmic sperm injection (ICSI)mutationPersistent Müllerian duct syndromeGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
AMH receptor type 2 cryptorchidism intracytoplasmic sperm injection (ICSI) mutation Persistent Müllerian duct syndrome Genetics QH426-470 |
| spellingShingle |
AMH receptor type 2 cryptorchidism intracytoplasmic sperm injection (ICSI) mutation Persistent Müllerian duct syndrome Genetics QH426-470 Jianzheng Fang Gao Gao Jinyong Liu Lingbo Cai Yugui Cui Xiaoyu Yang A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome |
| description |
Abstract Background Persistent Müllerian duct syndrome (PMDS) is defined as the presence of Müllerian duct derivatives in an otherwise normally virilized 46, XY male. It is usually caused by homozygous or compound heterozygous mutations in either the anti‐Müllerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. The main purpose of the study is to determine the novel mutations of AMHR2 in PMDS patients and their intracytoplasmic sperm injection outcomes (ICSI). Methods Whole‐exome sequencing (WES) was carried out. Sanger sequencing was used to detect mutations in AMHR2. The pathogenicity of the identified variant and its possible effects on the protein were evaluated with in silico tools. The expression level of AMHR2 was determined by Western blotting. The spermatogenic function was evaluated by testicular sperm aspiration and histopathologic examination. The ICSI outcomes were recorded. Results We present two brothers with a history of bilateral cryptorchidism with orchidopexy and infertility due to azoospermia. A novel compound heterozygous mutation of c.1219C>T [p.R407X] and c.1387C>T [p.R463C] in exons 9 and 10 of AMHR2 (NM_020547.2) was detected by whole‐exome sequencing (WES). Spermatozoon could be retrieved from the two patients by testicular aspiration following intracytoplasmic sperm injection (ICSI) due to azoospermia. Finally, patient 1 had two healthy boys and patient 2 failed to conceive after three ICSI attempts. Conclusion The spermatozoa could obtain from PMDS patients due to azoospermia. For patients with bilateral cryptorchidism, PMDS should be included in the differential diagnosis and that genetic counseling needs to be considered when they seek reproductive help. |
| format |
article |
| author |
Jianzheng Fang Gao Gao Jinyong Liu Lingbo Cai Yugui Cui Xiaoyu Yang |
| author_facet |
Jianzheng Fang Gao Gao Jinyong Liu Lingbo Cai Yugui Cui Xiaoyu Yang |
| author_sort |
Jianzheng Fang |
| title |
A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome |
| title_short |
A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome |
| title_full |
A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome |
| title_fullStr |
A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome |
| title_full_unstemmed |
A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome |
| title_sort |
novel mutation of amhr2 in two brothers with persistent müllerian duct syndrome and their intracytoplasmic sperm injection outcome |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/62bdb091c8f64a2e938dd811d41609a5 |
| work_keys_str_mv |
AT jianzhengfang anovelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT gaogao anovelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT jinyongliu anovelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT lingbocai anovelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT yuguicui anovelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT xiaoyuyang anovelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT jianzhengfang novelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT gaogao novelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT jinyongliu novelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT lingbocai novelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT yuguicui novelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome AT xiaoyuyang novelmutationofamhr2intwobrotherswithpersistentmullerianductsyndromeandtheirintracytoplasmicsperminjectionoutcome |
| _version_ |
1718439873151500288 |