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

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Abstract

Multiple endocrine neoplasia 2A (MEN 2A) is an inherited dominant syndrome characterised by medullary thyroid carcinoma, adrenal pheochromocytoma and hyperparathyroidism due to specific RET proto-oncogene mutations. Fertile MEN 2A women are at risk of complicated pregnancy because of unrecognised pheochromocytoma and transmission of RET mutation to the progeny. This condition may cause psychological distress in affected pregnant patients and their families. Here we describe the genetic prenatal testing, the pregnancy management and obstetric outcome in a MEN 2A patient with a right side adrenal hyperplasia and elevated calcitonin levels, a condition suspicious for possible recurrence of pheochromocytoma. We confirm that maternal or fetal complications are rare when MEN 2A diagnosis is made before pregnancy and an accurate monitoring is instituted. Furthermore, our results indicate that prenatal testing for RET mutations is highly recommended in making decisions and assuring parents on the lifelong risk of tumors. This will avoid the psychological distress that can further complicate the pregnancy of affected women.

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Authors and Affiliations

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

    P. Martinelli, G. M. Maruotti, D. Paladini, A. Agangi & A. Bellastella

  2. Department of Internal and Experimental Medicine and Surgery, Endocrinology and Andrology Section, Second University of Naples, Via S. Pansini 5, 80131, Naples, Italy

    D. Pasquali & A. A. Sinisi M.D.

  3. Faculty of Biological Sciences, University of Sannio, Benevento, Italy

    E. Rippa & V. Colantuoni

  4. Department of Biochemistry and Medical Biotechnologies, CEINGE Centro di Ingegneria Genetica, Faculty of Medicine, University of Naples Federico II, Naples, Italy

    E. Rippa & V. Colantuoni

Authors
  1. P. Martinelli
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  2. G. M. Maruotti
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  3. D. Pasquali
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  4. D. Paladini
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  5. A. Agangi
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  6. E. Rippa
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  7. V. Colantuoni
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  8. A. Bellastella
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  9. A. A. Sinisi M.D.
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Corresponding author

Correspondence to A. A. Sinisi M.D..

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Martinelli, P., Maruotti, G.M., Pasquali, D. et al. Genetic prenatal RET testing and pregnancy management of multiple endocrine neoplasia Type II A (MEN2A): A case report. J Endocrinol Invest 27, 357–360 (2004). https://doi.org/10.1007/BF03351062

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  • DOI: https://doi.org/10.1007/BF03351062

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