Management and results of thyroidectomies in pediatric patients with MEN 2 syndrome

Abstract

Aim of the study: To evaluate the outcome of prophylactic thyroidectomies (PT) in patients with MEN 2 syndrome in a tertiary center.

Methods: A retrospective study was designed, including all patients with MEN 2 syndrome who underwent PT between 2000 and 2019. Demographics, gene mutation, postoperative complications and histopathological findings were registered.

Main results: 30 patients were included (29 MEN 2A and 1 MEN 2B) with a median age at surgery time of 7.0 ± 3.2 years. Familiar history was present in all but 3 patients. A therapeutic thyroidectomy was performed in 2 patients due to evidence of medullary thyroid carcinoma (MTC, both were late diagnosis), and in the other 28 cases, a PT was performed. 8 patients had a RET mutation ranked as Moderate Risk (American Thyroid Association): median age at surgery was 7.2 ± 4.2 years, and histological findings were C-cell hyperplasia (n = 6) and no alterations (n = 2). 16 patients had a high risk mutation; median age at surgery time was 6.9 ± 2.8 years and histological findings were normal thyroid gland (n = 1), C Cell Hyperplasia (n = 8), microcarcinoma (n = 6), and MTC (n = 1). The mean hospital stay was 1.4 ± 0.68 days. No intraoperative complications or recurrent laryngeal nerve injuries were registered. 7 patients presented a transient hypoparathyroidism and 1 patient had permanent hypoparathyroidism.

Conclusions: Early PT in patients with MEN 2 syndrome is a safe procedure when performed by an experienced team of Pediatric Surgeons and with a multidisciplinary approach. Early genetic analysis and familial counselling is essential to prevent the development of a MTC.

Keywords: Medullary thyroid carcinoma; Men 2 syndrome; Pediatric surgery; Prophylactic thyroidectomy.