A Novel AMH Missense Mutation in a Patient with Persistent Mullerian Duct Syndrome

被引：11

作者：

van der Zwan, Y. G. ^{[1
]}

Bruggenwirth, H. T. ^{[5
]}

Drop, S. L. S. ^{[1
]}

Wolffenbuttel, K. P. ^{[2
]}

Madern, G. C. ^{[3
]}

Looijenga, L. H. J. ^{[4
]}

Visser, J. A. ^{[6
]}

机构：

[1] Erasmus MC Univ Med Ctr Rotterdam, Dept Pediat Endocrinol, Rotterdam, Netherlands

[2] Erasmus MC Univ Med Ctr Rotterdam, Dept Pediat Urol, Rotterdam, Netherlands

[3] Erasmus MC Univ Med Ctr Rotterdam, Sophia Childrens Hosp, Dept Pediat Surg, Rotterdam, Netherlands

[4] Erasmus MC Univ Med Ctr Rotterdam, Daniel den Hoed Canc Ctr, Josephine Nefkens Inst, Dept Pathol, Rotterdam, Netherlands

[5] Erasmus MC Univ Med Ctr Rotterdam, Dept Clin Genet, Rotterdam, Netherlands

[6] Erasmus MC Univ Med Ctr Rotterdam, Dept Internal Med, Rotterdam, Netherlands

来源：

SEXUAL DEVELOPMENT | 2012年 / 6卷 / 06期

关键词：

Anti-Mullerian hormone; Missense mutation; Persistent Mullerian duct syndrome; TRANSVERSE TESTICULAR ECTOPIA; RECEPTOR; HORMONE; SEX; DIFFERENTIATION; TUMORS; GENE;

D O I：

10.1159/000339704

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Persistent Mullerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Mullerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation. Copyright (C) 2012 S. Karger AG, Basel

引用

页码：279 / 283

页数：5

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