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Review
. 1991;52(6):415-9.

[Molecular biology of normal and pathologic anti-müllerian hormone]

[Article in French]
Affiliations
  • PMID: 1824493
Review

[Molecular biology of normal and pathologic anti-müllerian hormone]

[Article in French]
S Imbeaud et al. Ann Endocrinol (Paris). 1991.

Abstract

Anti-Müllerian hormone, responsible for Müllerian regression in male fetuses, is a glycoprotein dimer with two 72 kD subunits. The AMH gene is a small (2,800 bp) gene with 5 exons, localized on the tip of the short arm of chromosome 19, band p 133, and transcribed in a 2,000 kbp mRNA. Persistent Müllerian duct syndrome, a rare form of male pseudohermaphroditism characterized by the presence of uterus and Fallopian tubes in patients with normally virilized genitalia, may result from defective AMH gene or from target-organ insensitivity. Four mutations were identified in the AMH gene, 3 are point mutations (2 stop codons, the third altering the secondary structure of the molecule), the last is a 14 bp deletion, leading to alteration of the reading frame of the mRNA.

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