peculiarities of precocious puberty in boys and girls with mccune-albright syndrome

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ID: 203615
2018
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Abstract
McCune-Albright Syndrome (MAS; OMIM # 174800) is a rare, sporadic disease caused by a post-zygotic, activating mutation in the guanine-nucleotide binding protein α-subunit (GNAS1) gene. MAS is characterized by the clinical triad of polyostotic fibrous dysplasia of bone, café-au-lait skin pigmentation and peripheral precocious puberty. However, clinical presentation is highly variable depending on mosaic tissue distribution of mutant-bearing cells. Precocious puberty is the most common endocrine manifestation of MAS and is often the presenting, and sometimes the only, clinical sign of MAS. Due to the very low prevalence of MAS, data on course of precocious puberty, effectiveness of treatments and gonadal function during post-pubertal period are lacking. Our knowledge on this issue derives essentially from case reports and small cohorts of patients. The aim of this review is to report all available literature data on clinical aspects, therapeutic management and outcomes of precocious puberty in children with MAS. A systematic research was carried out through MEDLINE via PubMed, EMBASE, Web of Science, Semantic Scholar, Cochrane Library.
Reference Key
corica2018frontierspeculiarities Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Domenico Corica;Tommaso Aversa;Giorgia Pepe;Filippo De Luca;Malgorzata Wasniewska
Journal aip advances
Year 2018
DOI
10.3389/fendo.2018.00337
URL
https://www.frontiersin.org/article/10.3389/fendo.2018.00337/full
Keywords
therapy clinical endocrinology

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