|
Hokkaido University Collection of Scholarly and Academic Papers >
Graduate School of Medicine / Faculty of Medicine >
Peer-reviewed Journal Articles, etc >
Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Mullerian duct syndrome
| Title: | Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Mullerian duct syndrome |
| Authors: | Morikawa, Shuntaro Browse this author | | Moriya, Kimihiko Browse this author →KAKEN DB | | Ishizu, Katsura Browse this author | | Tajima, Toshihiro Browse this author |
| Keywords: | AMH | | cryptorchidism | | mutations | | persistent Mullerian duct syndrom (PMDS) |
| Issue Date: | Nov-2014 |
| Publisher: | Walter De Gruyter |
| Journal Title: | Journal of pediatric endocrinology & metabolism |
| Volume: | 27 |
| Issue: | 11-12 |
| Start Page: | 1223 |
| End Page: | 1226 |
| Publisher DOI: | 10.1515/jpem-2014-0111 |
| Abstract: | Persistent Mullerian duct syndrome (PMDS) is an autosomal recessive disorder of sex development (DSD) characterized by the presence of Mullerian duct derivatives in 46, XY phenotypic males. To date, more than 50 different mutations of the anti-Mullerian hormone gene (AMH) have been reported. Here, we report two novel mutations of AMH in a Japanese patient with PMDS. A 1-year-old male presented with bilateral cryptorchidism and normal male external genitalia. A laparoscopic surgery revealed a uterus and fallopian tubes. Serum AMH was very low. The patient's elder brother was also diagnosed as having PMDS at another hospital. Genetic analysis of AMH showed two novel mutations of p.N486T and p.V527L. Given that these two amino acids are well conserved among different species of AMH, the substitution of two amino acids might affect the normal function of AMH. In conclusion, PMDS should be included in differential diagnoses of cryptorchidism. |
| Rights: | The final publication is available at www.degruyter.com |
| Type: | article |
| URI: | http://hdl.handle.net/2115/60248 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
|
Submitter: 田島 敏広
|
