Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 ( GH1 ) gene (c.291+1G>T). In this autosomal dominant form of growth hormone defic...

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Detalles Bibliográficos
Autores principales: Labello, Julia Haddad, Benedetti, Anna Flávia Figueredo, Azevedo, Bruna Viscardi, Jorge, Alexander Augusto de Lima, Cescato, Valter Angelo Sperling, Rosemberg, Sergio, Frasseto, Fernando Pereira, Arnhold, Ivo Jorge Prado, de Carvalho, Luciani Renata Silveira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9991035/
https://www.ncbi.nlm.nih.gov/pubmed/35029852
http://dx.doi.org/10.20945/2359-3997000000428

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