Cargando…
Pubertal development in 46,XY patients with NR5A1 mutations
PURPOSE: Mutations in the NR5A1 gene, encoding the transcription factor Steroidogenic Factor-1, are associated with a highly variable genital phenotype in patients with 46,XY differences of sex development (DSD). Our objective was to analyse the pubertal development in 46,XY patients with NR5A1 muta...
Autores principales: | Mönig, Isabel, Schneidewind, Julia, Johannsen, Trine H., Juul, Anders, Werner, Ralf, Lünstedt, Ralf, Birnbaum, Wiebke, Marshall, Louise, Wünsch, Lutz, Hiort, Olaf |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8816419/ https://www.ncbi.nlm.nih.gov/pubmed/34613524 http://dx.doi.org/10.1007/s12020-021-02883-y |
Ejemplares similares
-
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis
por: Werner, Ralf, et al.
Publicado: (2017) -
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis
por: de Oliveira, Felipe Rodrigues, et al.
Publicado: (2023) -
Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism
por: Ljubicic, Marie Lindhardt, et al.
Publicado: (2021) -
Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis
por: Meinel, Jakob A, et al.
Publicado: (2023) -
Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals
por: Domenice, Sorahia, et al.
Publicado: (2016)