Functional analyses of new nucleotide variations in NR5A1 gene in patients 46,XY with disorders of sex development

Author(s)

Helena Fabbri Scallet

• Document type: Doctoral Thesis
• Press: Campinas, SP.
• Institution: Universidade Estadual de Campinas (UNICAMP). Instituto de Biologia
• Defense date: 2017-08-29

Examining board members

Maricilda Palandi de Mello; Maria de Fátima Sonati; Carmen Sílvia Bertuzzo; Elaine Maria Frade Costa; Edmilson Ricardo Gonçalves

• Advisor: Olaf Hiort; Ralf Werner; Maricilda Palandi de Mello

Abstract

Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Mutations in the NR5A1 gene, which encodes the transcription factor SF-1, are responsible for different phenotypes of DSD, such partial and complete gonadal dysgenesis, 46,XX testicular and ovotesticular DSD, bilateral anorchia, hypospadia, and also can be associated with primary amenorrhea, premature ovarian failure, male infertility, adrenal tumors and others...Note: The complete abstract is available with the full electronic document (AU)

• FAPESP's process: 13/05603-5 - Functional analyses of new nucleotide variations in NR5A1 gene in patients 46,XY with disorders of sex development
• Grantee: Helena Fabbri Scallet
• Support Opportunities: Scholarships in Brazil - Doctorate