Prepubertal unilateral gynecomastia and the presence of 47,XXY mosaicism in breast epithelial cells: a case report

Abstract Breast enlargement in prepubertal boys is a rare condition. This case report describes an otherwise healthy 3-year old non-obese boy who developed a large unilateral cystic breast mass measuring approximately 9 × 6 × 4 cm. The mass was initially treated as a lymphatic malformation, and scle...

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Bibliographic Details
Published in:Journal of pediatric surgery 2013-02, Vol.48 (2), p.e21-e23
Main Authors: Andersen, Peter Stemann, Petersen, Bodil Laub, Juul, Anders, Andersen, Mikael
Format: Article
Language:English
Subjects:
47. XXY Mosaicism
Aneuploidy
Breast - pathology
Breast enlargement
Child, Preschool
Epithelial Cells
Gynecomastia
Gynecomastia - genetics
Gynecomastia - pathology
Humans
Male
Mosaicism
Pediatrics
Prepubescent
Surgery
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Summary:Abstract Breast enlargement in prepubertal boys is a rare condition. This case report describes an otherwise healthy 3-year old non-obese boy who developed a large unilateral cystic breast mass measuring approximately 9 × 6 × 4 cm. The mass was initially treated as a lymphatic malformation, and sclerotherapy with Picibanil® (OK-432) was attempted without any detectable effect on size. The mass was later excised. The pathological examination revealed mammary gland tissue suggestive of idiopathic gynecomastia. FISH revealed 47, XXY mosaicism in the abnormal breast epithelial cells, but not in peripheral blood lymphocytes.
ISSN:0022-3468
1531-5037
DOI:10.1016/j.jpedsurg.2012.11.051