A novel AMH missense mutation in a patient with persistent müllerian duct syndrome

Y. G. Van Der Zwan; H. T. Brüggenwirth; S. L.S. Drop; K. P. Wolffenbuttel; G. C. Madern; L. H.J. Looijenga; J. A. Visser

doi:10.1159/000339704

A novel AMH missense mutation in a patient with persistent müllerian duct syndrome

Y. G. Van Der Zwan, H. T. Brüggenwirth, S. L.S. Drop, K. P. Wolffenbuttel, G. C. Madern, L. H.J. Looijenga, J. A. Visser

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

Abstract

Persistent Müllerian 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-Müllerian 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.

Original language	English
Pages (from-to)	279-283
Number of pages	5
Journal	Sexual Development
Volume	6
Issue number	6
DOIs	https://doi.org/10.1159/000339704
Publication status	Published - Nov 2012
Externally published	Yes

Keywords

Anti-Müllerian hormone
Missense mutation
Persistent Müllerian duct syndrome

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10.1159/000339704

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title = "A novel AMH missense mutation in a patient with persistent m{\"u}llerian duct syndrome",

abstract = "Persistent M{\"u}llerian 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-M{\"u}llerian 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.",

keywords = "Anti-M{\"u}llerian hormone, Missense mutation, Persistent M{\"u}llerian duct syndrome",

author = "\{Van Der Zwan\}, \{Y. G.\} and Br{\"u}ggenwirth, \{H. T.\} and Drop, \{S. L.S.\} and Wolffenbuttel, \{K. P.\} and Madern, \{G. C.\} and Looijenga, \{L. H.J.\} and Visser, \{J. A.\}",

note = "Copyright {\textcopyright} 2012 S. Karger AG, Basel.",

year = "2012",

month = nov,

doi = "10.1159/000339704",

language = "English",

volume = "6",

pages = "279--283",

journal = "Sexual Development",

issn = "1661-5425",

publisher = "S. Karger AG",

number = "6",

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TY - JOUR

T1 - A novel AMH missense mutation in a patient with persistent müllerian duct syndrome

AU - Van Der Zwan, Y. G.

AU - Brüggenwirth, H. T.

AU - Drop, S. L.S.

AU - Wolffenbuttel, K. P.

AU - Madern, G. C.

AU - Looijenga, L. H.J.

AU - Visser, J. A.

PY - 2012/11

Y1 - 2012/11

N2 - Persistent Müllerian 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-Müllerian 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.

AB - Persistent Müllerian 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-Müllerian 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.

KW - Anti-Müllerian hormone

KW - Missense mutation

KW - Persistent Müllerian duct syndrome

UR - https://www.scopus.com/pages/publications/84870834403

U2 - 10.1159/000339704

DO - 10.1159/000339704

M3 - Article

C2 - 22797409

SN - 1661-5425

VL - 6

SP - 279

EP - 283

JO - Sexual Development

JF - Sexual Development

IS - 6

ER -

A novel AMH missense mutation in a patient with persistent müllerian duct syndrome

Abstract

Keywords

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