Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association

A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX disorder of sex development (DSD). He was tested t...

Descripción completa

Detalles Bibliográficos
Autores principales: Du, Yang Timothy, Rutter, Angus, Ho, Jui T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063987/
https://www.ncbi.nlm.nih.gov/pubmed/30087777
http://dx.doi.org/10.1530/EDM-18-0054

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063987/
https://www.ncbi.nlm.nih.gov/pubmed/30087777
http://dx.doi.org/10.1530/EDM-18-0054

Ejemplares similares