McCune Albright Syndrome Journals

McCune-Albright syndrome is a rare, genetic, non-inherited condition that causes bone tumors, bone deformity and fractures. Mutation of the GS gene in chromosome 20q13 occurs early in development, and results in a mosaic of abnormal and mutated cells. The manifestations of MAS in each individual depend upon the extent and distribution of abnormal cells. Abnormal and prolonged activation of multiple peripheral endocrine glands occurs even while the necessary stimulatory pituitary hormones may be absent. Precocious puberty, with onset of breast development, pubic hair, and the onset of menses as early as the first few months of life may occur in females. Other manifestations include acromegaly, hyperthyroidism, hyperprolactinemia, and others. Frequently involved bones include the femur, the tibia, the facial skeleton, and the ribs. Bone fragility and associated fractures are common, and weight-bearing bones may suffer multiple fractures. In the proximal femurs, multiple successive cortical microfractures may result in characteristic bowing of the proximal end of the bone into a "shepherd's crook" deformity. A journal is a periodical publication intended to further progress of science, usually by reporting new research. Most journals are highly specialized, although some of the oldest journals publish articles, reviews, editorials, short communications, letters, and scientific papers across a wide range of scientific fields. Journals contain articles that peer reviewed, in an attempt to ensure that articles meet the journal's standards of quality, and scientific validity. Each such journal article becomes part of the permanent scientific record.

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Last date updated on April, 2024