2017Indian Journal of Nuclear MedicineOpen access

Hypothyroidism in mccune–albright syndrome and role of bone scan in management of fibrous dysplasia: An unusual case scenario with review of literature

Sanjay Gambhir, Narvesh Kumar, SubhashChand Kheruka, Rani KuntiR Singh, Mudalsha Ravina, Deepanksha Dutta

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Abstract

The McCune-Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible. Bone scan can be the modality of choice to look for bone disease burden of fibrous dysplasia in most patients of MAS and may change the management accordingly. Most of the cases of MAS reported worldwide are associated with hyperthyroidism, up to best of our knowledge on the basis of literature search in pubmed and Google; no case was reported with hypothyroidism. Herein, we report a 12-year-old girl diagnosed with MAS and associated hypothyroidism. We have also reviewed the MAS related literature.

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What this paper is about

The McCune-Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible. Bone scan can be the modality of choice to look for bone disease burden of fibrous dysplasia in most patients of MAS and may change the management accordingly. Most of the cases of MAS reported worldwide are associated with hyperthyroidism, up to best of our knowledge on the basis of literature search in pubmed and Google; no case was reported with hypothyroidism. Herein, we report a 12-year-old girl diagnosed with MAS and associated hypothyroidism. We have also reviewed the MAS related literature.

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Available abstract

The McCune-Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible. Bone scan can be the modality of choice to look for bone disease burden of fibrous dysplasia in most patients of MAS and may change the management accordingly. Most of the cases of MAS reported worldwide are associated with hyperthyroidism, up to best of our knowledge on the basis of literature search in pubmed and Google; no case was reported with hypothyroidism. Herein, we report a 12-year-old girl diagnosed with MAS and associated hypothyroidism. We have also reviewed the MAS related literature.

Key concepts: McCune–Albright syndrome, Medicine, Fibrous dysplasia, Polyostotic fibrous dysplasia, Café au lait spot, Precocious puberty, Dermatology, Dysplasia

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