ESPE Abstracts

Introduction: It has been suggested in the literature that gynecomastia may occur in patients with neurofibromatosis type 1 (NF-1) and may develop due to neurofibroma or stromal tissue hyperplasia. In this case study, we will share our experience of managing a patient diagnosed with NF-1 who developed gynecomastia before puberty.

Case: A nine-year-old male patient with a diagnosis of NF-1 presented with complaintsof short stature for twoyears and bilateral breast enlargement for one year. It was learned that he was born vaginally at term with weight of 3700g. Therewas no family history of neurofibromatosis, short stature or gynecomastia. On examination, the patient was found to be 121cm in height(-2.4SD), with a body weight of 22 kg(-2.03SD), a body mass index of 15.17 kg/m2(-0.89SD), and a target height was 163.3cm(-1.76SD), and he had multiple 8 × 5cm milky brown spots on his body, the largest of which was on the 4th-5th intercostal space of the left chest, and axillary freckles. The testicular volumes were found to be3/3mL, while the length of the stretched penis was5 cm. It was observed that the patient had bilateral stage3 gynecomastia, with deep palpation revealing a 2cm hard tender subareolar tissue. Laboratory tests for gynecomastia were normal. The bone age was found to be between 8-9years. The breast ultrasonography revealed fibroglandular tissue of 24 × 10mm on the right and 25 × 4mm on the left. The cranialMRI revealed hyperintense lesions in bilateral globus pallidus, dentate nuclei, thalamus, deep white matter of cerebellar hemisphere without contrast agent uptake. An orbitalMRI revealed a prechiasmatic short segment in both optic nerves and mild thickening, more prominent on the right, which was considered to be an optic glioma. Given that the etiology of gynecomastia in patients with neurofibromatosis may be neurofibroma or stromal tissue hyperplasia, the patient was evaluated with a multidisciplinary approach in terms of diagnosis and follow-up plan. Given the current investigations, an excisional biopsy was not considered the most appropriate course of action. It was decided to follow the patient every six months. At the six-month follow-up examination, there was no increase in the size of gynecomastia and repeated laboratory tests showed no pathology.

Conclusion: It would seem that gynecomastia in patients with neurofibromatosis type1 has been reported in a few cases in the literature. In this context, we would like to discuss the diagnosis and follow-up plan in our NF-1 patient with gynecomastia.

Keywords: Neurofibromatosis Type 1, gynecomastia, neurofibroma