Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.
Objective and hypotheses: To explore the aetiology of the huge breast development and the mechanism of hypercalcaemia and consider the options for treatment and the ethical dilemma that this presented regarding mastectomy vs reduction surgery.
Method: Case presentation.
Results: Endocrine investigations including LH, FSH, IGF, IGFBP-3 and prolactin were all within normal range. An Ultrasound scan revealed hyperstimulated breast tissue with no abscess or malignant features. The case highlights a rare and interesting condition; cases of severe juvenile hypertrophy of the breast have been previously reported but there remains a paucity of evidence. Options for treatment were to continue with medical management or consider surgical intervention. A literature review suggested the most appropriate surgical intervention was total simple mastectomy.
Conclusion: Total, simple mastectomy was undertaken following initial management with Gonapeptyl and Tamoxifen. Samples were sent for PTH-rP and 1,25 OH vit D to further evaluate the cause of hypercalcaemia. Histology of the breast tissue revealed features consistent with massive juvenile hypertrophy.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology