# Unilateral severe gynecomastia in a 14 year-old adolescent with neurofibromatosis type 1 undergoing endoscopic mastectomy: a case report

## TL;DR

A 14-year-old boy with neurofibromatosis type 1 developed severe gynecomastia, which was treated with endoscopic mastectomy and confirmed with genetic and histological analysis.

## Contribution

This case report presents a rare instance of unilateral gynecomastia in a young NF-1 patient and demonstrates successful minimally invasive treatment.

## Key findings

- Endoscopic mastectomy successfully treated unilateral gynecomastia in a 14-year-old with NF-1.
- Immunohistochemical analysis confirmed the presence of neurofibroma type 1.
- The c.1431del: p.F477Lfs*21 mutation was identified in the patient based on family history.

## Abstract

Gynecomastia can be caused by neurofibromas but has rarely been reported. The present case report describes the clinical appearance, diagnosis, and therapy of a rare combination of a 14 year-old adolescent male unilateral severe gynecomastia with NF-1 neurofibromatosis. In this particular case, we successfully performed minimally invasive surgery using endoscopic mastectomy, which not only resulted in a satisfactory appearance but also confirmed the presence of neurofibroma type 1 by detecting typical immunohistochemical indicators associated with the disease. Additionally, we analyzed the gene responsible for the disease, c.1431del: p. F477Lfs*21, based on the patient’s family history.