A Novel AMH Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome | Zendy

Yvonne G. van der Zwan | Zendy; Hennie T. Brüggenwirth | Zendy; S L S Drop | Zendy; K.P. Wolffenbuttel | Zendy; G.C. Madern | Zendy; Leendert H. J. Looijenga | Zendy; JA Visser | Zendy

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A Novel <b><i>AMH</i></b> Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome

Author(s) -

Yvonne G. van der Zwan,

Hennie T. Brüggenwirth,

S L S Drop,

K.P. Wolffenbuttel,

G.C. Madern,

Leendert H. J. Looijenga,

JA Visser

Publication year - 2012

Publication title -

sexual development

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.528

H-Index - 44

eISSN - 1661-5433

pISSN - 1661-5425

DOI - 10.1159/000339704

Subject(s) - missense mutation , frameshift mutation , biology , anti müllerian hormone , mutation , uterus , medicine , endocrinology , genetics , gene , hormone

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.

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