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Genetic prenatal RET testing and pregnancy management of multiple endocrine neoplasia Type II A (MEN2A): a case

P Martinelli1, G M Maruotti, D Pasquali

  • 1Department of Obstetrics and Gynecology, Federico II University, Naples, Italy.

Journal of Endocrinological Investigation
|July 6, 2004
PubMed

Insights

Prenatal diagnosis and management of Multiple Endocrine Neoplasia 2A (MEN 2A) in pregnant women significantly reduce maternal and fetal complications. Genetic testing for RET mutations ensures informed decisions and alleviates parental anxiety regarding lifelong tumor risks.

Area of Science:

  • Endocrinology
  • Genetics
  • Obstetrics

Background:

  • Multiple endocrine neoplasia 2A (MEN 2A) is an inherited disorder caused by RET proto-oncogene mutations.
  • MEN 2A poses risks during pregnancy due to potential pheochromocytoma and germline RET mutation transmission.

Observation:

  • A case study of a MEN 2A patient with adrenal hyperplasia and elevated calcitonin during pregnancy.
  • Focus on genetic prenatal testing, pregnancy management, and obstetric outcomes.

Findings:

  • Maternal and fetal complications are infrequent with pre-pregnancy diagnosis and diligent monitoring.
  • Prenatal testing for RET mutations is crucial for parental decision-making and managing lifelong tumor risks.

Implications:

  • Early diagnosis and management of MEN 2A in pregnancy are vital for favorable outcomes.
  • Prenatal genetic testing for RET mutations can prevent psychological distress in affected families.
  • This approach supports informed reproductive choices for individuals with MEN 2A.

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