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Mycophenolate mofetil embryopathy may be dose and timing dependent

Ghee Soon Ang1, Sheila A Simpson, Aravind R Reddy

  • 1Department of Paediatric Ophthalmology, Royal Aberdeen Children's Hospital, Aberdeen, United Kingdom.

American Journal of Medical Genetics. Part A
|June 24, 2008
PubMed

Insights

Mycophenolate mofetil (MMF) is a teratogenic immunosuppressant. Exposure during pregnancy can cause birth defects like microtia and coloboma, with severity depending on dose and timing.

Area of Science:

  • Teratology
  • Immunosuppressive Therapy
  • Reproductive Toxicology

Background:

  • Mycophenolate mofetil (MMF) is an immunosuppressive drug.
  • MMF has been identified as a human teratogen.
  • A specific pattern of congenital malformations associated with MMF exposure has been documented.

Observation:

  • A case study details a mother with recurrent erythema multiforme treated with MMF.
  • First pregnancy: MMF exposure for 5 weeks resulted in spontaneous miscarriage at 7 weeks.
  • Second pregnancy: MMF exposure for 4 days in the 7th week of gestation led to a live birth with specific malformations.

Findings:

  • The newborn exhibited bilateral microtia, absent external auditory canals, and a right iris/chorioretinal coloboma.
  • These findings are consistent with the known MMF embryopathy phenotype.
  • The absence of other immunosuppressive exposures supports MMF as the causative agent.

Implications:

  • The severity of MMF embryopathy appears dose- and time-dependent.
  • This case highlights the teratogenic risks of MMF, even with short-term exposure.
  • Enhanced patient counseling and contraception advice are crucial for women on MMF therapy.

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