Long-Term Clinical Evolution of McCune-Albright syndrome: 15 years of follow-up

<div>Mc Cune Albright syndrome is a rare, sporadic disorder manifested by the triad of fibrous bone dysplasia (FD), café-au-lait skin spots and precocious puberty (PP), which may be associated with other hormonal hyperfunctions.  The broad spectrum of manifestations reflects the mosaicism of the activating somatic mutation of the GNAS gene in different tissues.</div> <div> Follow-up of patients with Mc Cune Albright syndrome in adulthood remains essential, and requires multidisciplinary management, as this population remains susceptible to sometimes serious complications related to the hyper-secretory nature of all possible endocrine conditions.  We report the case of a 15-year-old female patient with complete Mc Cune Albright syndrome since the age of 9 months.</div>

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2024-09-30
DOI
https://doi.org/10.5281/zenodo.14970449
Primary Topic
Bone Tumor Diagnosis and Treatments
Type
article
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article

Long-Term Clinical Evolution of McCune-Albright syndrome: 15 years of follow-up

Zenodo (CERN European Organization for Nuclear Research)
Bone Tumor Diagnosis and Treatments
article

Long-Term Clinical Evolution of McCune-Albright syndrome: 15 years of follow-up

article en

Abstract

<div>Mc Cune Albright syndrome is a rare, sporadic disorder manifested by the triad of fibrous bone dysplasia (FD), café-au-lait skin spots and precocious puberty (PP), which may be associated with other hormonal hyperfunctions.  The broad spectrum of manifestations reflects the mosaicism of the activating somatic mutation of the GNAS gene in different tissues.</div> <div> Follow-up of patients with Mc Cune Albright syndrome in adulthood remains essential, and requires multidisciplinary management, as this population remains susceptible to sometimes serious complications related to the hyper-secretory nature of all possible endocrine conditions.  We report the case of a 15-year-old female patient with complete Mc Cune Albright syndrome since the age of 9 months.</div>

Zenodo (CERN European Organization for Nuclear Research)
Gender equality, Good health and well-being
Openalex Percentile: Top 46%
Bone Tumor Diagnosis and Treatments
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