Article
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Archives of endocrinology and metabolism - 8 Mar 2022
Labello Julia Haddad, Benedetti Anna Flávia Figueredo, Azevedo Bruna Viscardi, de Lima Jorge Alexander Augusto, Cescato Valter Angelo Sperling, Rosemberg Sergio, Frasseto Fernando Pereira, Arnhold Ivo Jorge Prado, de Carvalho Luciani Renata Silveira
Abstract excerpt
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 deficiency (type II), exon 3 skipping results in expression of the 17.5 kDa isoform of growth hormone, which has a dominant...
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