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Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Mullerian duct syndrome

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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
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
Type: article
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

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