ArticleJournal of investigative medicine high impact case reports
Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.
Article in Journal of investigative medicine high impact case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
McCune-Albright syndrome (MAS) is a rare disorder, occurring in 1 in 100 000 to 1 in 1 000 000 live births, caused by post-zygotic somatic mutations in the GNAS gene. This leads to fibrous dysplasia (FD), café-au-lait (CAL) skin pigmentation, and hyperfunctioning endocrinopathies. We present a 32-month-old girl with recurrent vaginal bleeding, bilateral breast enlargement, and multiple irregular CAL spots crossing the midline. Imaging revealed ovarian cysts and skeletal lesions consistent with FD. Laboratory findings indicated gonadotropin-independent precocious puberty. A clinical diagnosis of MAS was made, and genetic testing was deemed unnecessary. MAS presents with variable severity, and early diagnosis requires clinical recognition of its hallmark features. Genetic testing can support the diagnosis, though its reliability may vary due to mosaicism. Management is symptomatic, focusing on controlling endocrine dysfunction and minimizing skeletal complications. Emerging therapies offer promise, but no definitive cure exists. Early recognition and management are crucial for optimizing outcomes.
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