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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...

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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

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