McCune-Albright syndrome: how many endocrinopathies can one patient have?

• Published in: Southern medical journal (Birmingham, Ala.) Vol. 86; no. 3; p. 364
• Main Authors: Cavanah, S F, Dons, R F
• Format: Journal Article
• Language: English
• Published: United States 01.03.1993
• Subjects: Bromocriptine - therapeutic use; Female; Fibrous Dysplasia, Polyostotic - blood; Fibrous Dysplasia, Polyostotic - complications; Fibrous Dysplasia, Polyostotic - diagnostic imaging; Heart Failure - complications; Heart Failure - drug therapy; Heart Failure - therapy; Humans; Hyperparathyroidism - complications; Hyperparathyroidism - diagnosis; Hyperparathyroidism - drug therapy; Hyperprolactinemia - complications; Hyperprolactinemia - diagnosis; Hyperprolactinemia - drug therapy; Hyperthyroidism - complications; Hyperthyroidism - diagnosis; Hyperthyroidism - drug therapy; Iodine Radioisotopes - therapeutic use; Middle Aged; Puberty, Precocious - complications; Puberty, Precocious - diagnosis; Puberty, Precocious - physiopathology; Radiography
• ISSN: 0038-4348

In this one patient with McCune-Albright syndrome are seen a multitude of endocrinopathies--more than in any case previously described. Only fibrous dysplasia with café-au-lait spots and/or endocrine hyperfunction are required for the diagnosis of the syndrome. Our patient has polyostotic fibrous dysplasia, café-au-lait spots, and at least four primary endocrinopathies. She had shown precocious puberty (with an ovarian follicular cyst later requiring resection), hyperthyroidism due to toxic nodular thyroid disease, primary hyperparathyroidism, and hyperprolactinemia (with associated hypogonadotropic hypogonadism and premature menopause). With this many organs involved in the same patient, it is hard to imagine that a genetic defect will not soon be identified as the unifying cause of the entire syndrome.