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

Journal of Endocrinological Investigation
P MartinelliA A Sinisi

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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Citations

Mar 27, 2015·Thyroid : Official Journal of the American Thyroid Association·Samuel A WellsUNKNOWN American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma
May 16, 2020·Frontiers in Endocrinology·Jes Sloth MathiesenMaria Rossing
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Apr 30, 2010·Obstetrics and Gynecology·David M ShererOvadia Abulafia
Apr 3, 2009·Archives of Gynecology and Obstetrics·Lalita WattanachanyaThiti Snabboon
Sep 27, 2013·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Giuseppe Maria MaruottiPasquale Martinelli
Nov 4, 2016·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Efterpi TingiLynda Verghese

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