July - September 2014, Volume 10, Issue 3

Pop-Radu CC

McCune-Albright Syndrome without Cafe au Lait Spots

Acta Endo (Buc) 2014, 10 (3): 502-513
doi: 10.4183/aeb.2014.502

Background. McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia (FD), café au lait skin lesions and a variety of endocrine or non-endocrine dysfunctions. Case presentation. We present the case of a 33 years old woman diagnosed with MAS in 2011. She presented precocious puberty at the age of five, multiple long bone fractures, but no café-au-lait spots were identified. The thyroid investigation tests revealed a toxic multinodular goiter. The thyroid scintigraphy showed an increased uptake in the superior third of the right lobe. The X-rays and bone scintigraphy revealed polyostotic FD. The patient was previously diagnosed with transmission hypoacusia, explicable in the setting of bony auditory canal deformity. The assessment of phospho-calcium balance showed a hyperphosphaturic hypophosphatemia. The liver enzymes levels were also increased, especially GGT. Conclusion. The sporadic mosaic nature of the disease means that it is an uncommon disease with a variable expression. Each case is unique, and the approach that was appropriate in one of the cases is likely not to be the best in another.

Keywords: polyostotic fibrous dysplasia, precocious puberty, toxic multinodular goiter, phosphate wasting, cholestasis.

Correspondence: Cristina Corina Pop-Radu MD, University of Medicine and Pharmacy - Endocrinology Department, Gh. Marinescu 38, Tg. Mures, E-mail: ccorinaradu@yahoo.com