Identification of <i>AMH</i> and <i>AMHR2</i> Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases
Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder of sexual development in males, defined by the presence of Müllerian remnants with otherwise normal sexual differentiation. Mutations in anti-Müllerian hormone (<i>AMH</i>) and AMH receptor type 2 (<i>...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-01-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/13/1/159 |
| _version_ | 1797493799604191232 |
|---|---|
| author | Yang Liu Sida Wang Ruzhu Lan Jun Yang |
| author_facet | Yang Liu Sida Wang Ruzhu Lan Jun Yang |
| author_sort | Yang Liu |
| collection | DOAJ |
| description | Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder of sexual development in males, defined by the presence of Müllerian remnants with otherwise normal sexual differentiation. Mutations in anti-Müllerian hormone (<i>AMH</i>) and AMH receptor type 2 (<i>AMHR2</i>) genes are the main causes of PMDS. In this study, we performed molecular genetic analysis of 11 unrelated cryptorchidism patients using whole-exome sequencing and classified the variants. Three of the 11 patients had biallelic mutations in <i>AMH</i> or <i>AMHR2</i>. Case 1 carried a homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 of <i>AMH</i> (NM_000479 transcript), which is a frameshift mutation, leading to the loss of function of AMH. Case 2 carried compound heterozygous mutations; c.494_502del (p.I165_A168delinsT) in exon 4 and g.6147C>A of <i>AMHR2</i> (NM_001164690 transcript). Case 3 carried compound heterozygous mutations; c.G1168A (p.E390K) in exon 9 and c.A1315G (p.M439V) in exon 10 of <i>AMHR2</i> (NM_001164690 transcript). All three patients were admitted due to azoospermia- and oligospermia-caused infertility. They were furtherly diagnosed with PMDS, as pelvic magnetic resonance imaging revealed the presence of Müllerian remnants. Our study suggests that PMDS and genetic analysis should be considered during the differential diagnosis of cryptorchidism. |
| first_indexed | 2024-03-10T01:25:08Z |
| format | Article |
| id | doaj.art-c4b6d209315e4cdba3dd396f03cbdf2d |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T01:25:08Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-c4b6d209315e4cdba3dd396f03cbdf2d2023-11-23T13:53:17ZengMDPI AGGenes2073-44252022-01-0113115910.3390/genes13010159Identification of <i>AMH</i> and <i>AMHR2</i> Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three CasesYang Liu0Sida Wang1Ruzhu Lan2Jun Yang3Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, ChinaDepartment of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, ChinaDepartment of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, ChinaDepartment of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, ChinaPersistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder of sexual development in males, defined by the presence of Müllerian remnants with otherwise normal sexual differentiation. Mutations in anti-Müllerian hormone (<i>AMH</i>) and AMH receptor type 2 (<i>AMHR2</i>) genes are the main causes of PMDS. In this study, we performed molecular genetic analysis of 11 unrelated cryptorchidism patients using whole-exome sequencing and classified the variants. Three of the 11 patients had biallelic mutations in <i>AMH</i> or <i>AMHR2</i>. Case 1 carried a homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 of <i>AMH</i> (NM_000479 transcript), which is a frameshift mutation, leading to the loss of function of AMH. Case 2 carried compound heterozygous mutations; c.494_502del (p.I165_A168delinsT) in exon 4 and g.6147C>A of <i>AMHR2</i> (NM_001164690 transcript). Case 3 carried compound heterozygous mutations; c.G1168A (p.E390K) in exon 9 and c.A1315G (p.M439V) in exon 10 of <i>AMHR2</i> (NM_001164690 transcript). All three patients were admitted due to azoospermia- and oligospermia-caused infertility. They were furtherly diagnosed with PMDS, as pelvic magnetic resonance imaging revealed the presence of Müllerian remnants. Our study suggests that PMDS and genetic analysis should be considered during the differential diagnosis of cryptorchidism.https://www.mdpi.com/2073-4425/13/1/159PMDScryptorchidismMüllerian remnants<i>AMH</i><i>AMHR2</i>genetic analysis |
| spellingShingle | Yang Liu Sida Wang Ruzhu Lan Jun Yang Identification of <i>AMH</i> and <i>AMHR2</i> Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases Genes PMDS cryptorchidism Müllerian remnants <i>AMH</i> <i>AMHR2</i> genetic analysis |
| title | Identification of <i>AMH</i> and <i>AMHR2</i> Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases |
| title_full | Identification of <i>AMH</i> and <i>AMHR2</i> Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases |
| title_fullStr | Identification of <i>AMH</i> and <i>AMHR2</i> Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases |
| title_full_unstemmed | Identification of <i>AMH</i> and <i>AMHR2</i> Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases |
| title_short | Identification of <i>AMH</i> and <i>AMHR2</i> Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases |
| title_sort | identification of i amh i and i amhr2 i variants led to the diagnosis of persistent mullerian duct syndrome in three cases |
| topic | PMDS cryptorchidism Müllerian remnants <i>AMH</i> <i>AMHR2</i> genetic analysis |
| url | https://www.mdpi.com/2073-4425/13/1/159 |
| work_keys_str_mv | AT yangliu identificationofiamhiandiamhr2ivariantsledtothediagnosisofpersistentmullerianductsyndromeinthreecases AT sidawang identificationofiamhiandiamhr2ivariantsledtothediagnosisofpersistentmullerianductsyndromeinthreecases AT ruzhulan identificationofiamhiandiamhr2ivariantsledtothediagnosisofpersistentmullerianductsyndromeinthreecases AT junyang identificationofiamhiandiamhr2ivariantsledtothediagnosisofpersistentmullerianductsyndromeinthreecases |