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

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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Bibliographic Details
Main Authors:	Yang Timothy Du, Angus Rutter, Jui Ho
Format:	Article
Language:	English
Published:	Bioscientifica 2018-07-01
Series:	Endocrinology, Diabetes & Metabolism Case Reports
Online Access:	https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-18-0054

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