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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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| Publicado no: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica Ltd
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6063987/ https://ncbi.nlm.nih.gov/pubmed/30087777 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-18-0054 |
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