Helena Campos Fabbri

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Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and(More)
Disorders of sex development (DSD) is the term used for congenital conditions in which development of chromosomal, gonadal, or phenotypic sex is atypical. Nuclear receptor subfamily 5, group A, member 1 gene (NR5A1) encodes steroidogenic factor 1 (SF1), a transcription factor that is involved in gonadal development and regulates adrenal steroidogenesis.(More)
Title: Novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and signs of late adrenal insufficiency and their mother with primary ovarian insufficiency The novelNovel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with 46,XY disordersnormal testosterone levels and signs of sex developmentlate adrenal(More)
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