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A 6-month-old boy was referred to our clinic with a 4-month history of progressive bilateral breast enlargement (figure 1). There was no history of maternal medication, infection, trauma, nipple discharge, contact with oestrogen products or familial breast disorder. He had bilateral painless breast enlargement without nipple discharge and signs of inflammation. His testes were both palpable in the scrotum, measuring 2 mL in volume.
There were no signs of other endocrine abnormalities.
From the patient's clinical presentation, what is the most likely diagnosis?
46,XX disorder of sex development
46,XY disorder of sex development
Other than breast ultrasound, which investigation(s) would you perform (multiple answers are possible)?
Whole blood count and erythrocyte sedimentation rate
Prolactin, total testosterone and oestradiol
Free thyroxine, thyroid stimulating hormone (TSH) and cortisol
Human chorionic gonadotropic hormone
This case was presented as a poster at ESPE (European Society for Pediatric Endocrinology) Meeting 2013, Milan, Italy.
Contributors GülK: diagnosed and wrote the paper. SK: carried out the breast ultrasound and needle aspiration. AÖ: participated in the diagnostic and writing process. Mİ: carried out the surgical excision. GünK: participated in the diagnostic and writing process.
Competing interests None declared.
Patient consent Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.