A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies

McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a v...

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Detalles Bibliográficos
Autores principales: Sung, Sang Hun, Yoon, Hyun Dae, Shon, Ho Sang, Kim, Hong Tae, Choi, Woo Young, Seo, Chang Jin, Lee, Joo Hyoung
Formato: Texto
Lenguaje:English
Publicado: The Korean Association of Internal Medicine 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687599/
https://www.ncbi.nlm.nih.gov/pubmed/17427647
http://dx.doi.org/10.3904/kjim.2007.22.1.45
Descripción
Sumario:McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, skin pigmentation, acromegaly, hyperprolactinemia and a thyroid nodule. A 23-year-old male presented for an evaluation of a change in his facial structures. Fibrous dysplasia was diagnosed by a bone biopsy and radiographic studies. The GH level increased paradoxically after an oral glucose load. The plasma prolactin, IGF-1 and alkaline phosphatase were high. Thyroid ultrasonography revealed multiple nodules. The brain MRI demonstrated a mass in the left pituitary gland. Genetic analysis identified a change from Arg (CGT) at codon 201 to Cys (TGT).

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