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...
| Main Authors: | , , |
|---|---|
| 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 |