Cargando…
46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations
Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD) phenotypes ranging from normal female externa...
Autores principales: | Fendereski, Kiarad, Carey, John, Timme, Kathleen, Hayes, Katherine, Robnett, Jessica, Schaeffer, Anthony |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671494/ https://www.ncbi.nlm.nih.gov/pubmed/34950567 http://dx.doi.org/10.1016/j.eucr.2021.101971 |
Ejemplares similares
-
When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD
por: Li, Oscar, et al.
Publicado: (2023) -
SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)
por: Adhikari, Amita, et al.
Publicado: (2019) -
Abstract 82: Rare case of 46XY OVO testicular DSD
por: Naushad, Altaf Ali, et al.
Publicado: (2022) -
Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma
por: Arya, Sneha, et al.
Publicado: (2021) -
MON-062 46 XX DSD Due to POR Deficiency
por: Reddy, Nithin Modhugu, et al.
Publicado: (2020)