2017Pediatrics & NeonatologyOpen access

McCune–Albright Syndrome: Diagnosis and clinical course in eleven patients

Jia‐Woei Hou

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Abstract

McCune–Albright Syndrome (MAS) (OMIM #174800) is a rare and complex genetic disorder. It is characterized by bone lesions that mainly present as polyostotic fibrous dysplasia (PFD), “café-au-lait” spots (CALS), and the autonomous hyperfunction of various endocrine organs; it frequently manifests in females as precocious puberty.1 However, the partial or atypical form of MAS usually presents with only one or two cardinal characteristics given that the distribution of GNAS gene (locus 20q13.2, #139320) mutations are often restricted to affected tissues.

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What this paper is about

McCune–Albright Syndrome (MAS) (OMIM #174800) is a rare and complex genetic disorder. It is characterized by bone lesions that mainly present as polyostotic fibrous dysplasia (PFD), “café-au-lait” spots (CALS), and the autonomous hyperfunction of various endocrine organs; it frequently manifests in females as precocious puberty.1 However, the partial or atypical form of MAS usually presents with only one or two cardinal characteristics given that the distribution of GNAS gene (locus 20q13.2, #139320) mutations are often restricted to affected tissues.

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Available abstract

McCune–Albright Syndrome (MAS) (OMIM #174800) is a rare and complex genetic disorder. It is characterized by bone lesions that mainly present as polyostotic fibrous dysplasia (PFD), “café-au-lait” spots (CALS), and the autonomous hyperfunction of various endocrine organs; it frequently manifests in females as precocious puberty.1 However, the partial or atypical form of MAS usually presents with only one or two cardinal characteristics given that the distribution of GNAS gene (locus 20q13.2, #139320) mutations are often restricted to affected tissues.

Key concepts: GNAS complex locus, McCune–Albright syndrome, Polyostotic fibrous dysplasia, Medicine, Fibrous dysplasia, Café au lait spot, Precocious puberty, Endocrine system

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