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

Morikawa, Shuntaro; Moriya, Kimihiko; Ishizu, Katsura; Tajima, Toshihiro

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

Morikawa, Shuntaro; Moriya, Kimihiko; Ishizu, Katsura et al.

Journal of pediatric endocrinology & metabolism, 2014, 27(11-12), 1223-1226

Permalink : https://hdl.handle.net/2115/60248

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論文情報

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アクセス権	open access
URI	https://hdl.handle.net/2115/60248
タイトル	Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Mullerian duct syndrome
著者	Morikawa, Shuntaro ; Moriya, Kimihiko ; Ishizu, Katsura ; Tajima, Toshihiro
著者名 Morikawa, Shuntaro
e-Rad_Researcher 20374233 著者名 Moriya, Kimihiko
著者名 Ishizu, Katsura
著者名 Tajima, Toshihiro
言語	英語
キーワード	AMH
	cryptorchidism
	mutations
	persistent Mullerian duct syndrom (PMDS)
発行日	2014-11
出版者	Walter De Gruyter
収録物名	Journal of pediatric endocrinology & metabolism
巻(号)	27(11-12)
ページ	1223-1226
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Version of Record
権利情報	The final publication is available at www.degruyter.com
PISSN	0334-018X
関連情報 (isIdenticalTo)	出版社版DOI https://doi.org/10.1515/jpem-2014-0111