McCune Albright syndrome: an endocrine medley

McCune-Albright综合征:内分泌紊乱

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Abstract

McCune Albright syndromeis a rare disorder that presents with multiple endocrine abnormalities. We report the case of a 24-year-old woman who presented with right lower limb pain, with no preceding trauma or fracture. On examination she was noted to have coarsened facial features, acral enlargement, bitemporal hemianopia, galactorrhoea and multiple café-au-lait macules. She gave history of precocious puberty, having attained menarche at 7 years of age. Biochemical investigations revealed hyperprolactinaemia, with unsuppressed growth hormone levels following a glucose load and subclinical hyperthyroidism. Technetium-99m methylene diphosphonate bone scan showed polyostotic fibrous dysplasia, MRI of the brain showed a pituitary macroadenoma. Thus she was diagnosed to have McCune Albright syndrome with multiple endocrine manifestations. She was treated with parenteral zoledronate for her bony lesions and initiated on cabergoline for plurihormonal pituitary macroadenoma. She is planned to be on close follow-up to assess for clinical improvement and appearance of other manifestations.

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