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Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage

Soara Menabò1, Antonio Balsamo, Annalisa Nicoletti

  • 1Department of Pediatrics, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy.

Hormone Research
|June 13, 2008
PubMed
Abstract

Insights

Persistent Mullerian Duct Syndrome (PMDS) in a 46,XY patient resulted from novel AMH gene mutations. These mutations appear to affect hormone function rather than secretion levels.

Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Persistent Mullerian Duct Syndrome (PMDS) is a rare condition in 46,XY individuals characterized by the presence of female internal reproductive organs.
  • It is typically caused by mutations in the Anti-Müllerian Hormone (AMH) gene or its receptor (AMHR2).
  • AMH serum levels are usually low in AMH gene defects and normal in AMHR2 gene defects.

Observation:

  • A 1-month-old Italian patient, phenotypically male, presented with a right inguinal hernia.
  • Surgical examination revealed bilateral testes within the same hernial sac, along with abdominal uterus and fallopian tubes.

Findings:

  • Genetic testing excluded the common AMHR2 27-bp deletion.
  • Three novel sequence variations were identified in the AMH gene: p.A405P (paternal allele) and p.G326V plus p.V508A (maternal allele).

Implications:

  • Normal serum AMH levels post-genetic analysis suggest these AMH mutations impact hormone bioactivity, not secretion.
  • This case highlights the genetic heterogeneity of PMDS and the importance of investigating novel mutations.

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