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A 29-year-old woman with neurofibromatosis 1 (NF1) due to NF1 gene deletion presented for evaluation of long-standing secondary amenorrhea. She noted increasing growth of her hands and feet, inability to… Click to show full abstract
A 29-year-old woman with neurofibromatosis 1 (NF1) due to NF1 gene deletion presented for evaluation of long-standing secondary amenorrhea. She noted increasing growth of her hands and feet, inability to fit her ring on her fingers and increasing shoe size (currently US size 12). Physical examination revealed coarse and asymmetrical facial features, arthropathy with large hands and feet and multiple cafe-au-lait lesions. Biochemical evaluation was consistent with growth hormone (GH) and prolactin excess. Pituitary MRI with T1-weighted images showed a voluminous and symmetrically enlarged gland (overall …
Journal Title: BMJ Case Reports
Year Published: 2017
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