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: | , , |
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| Format: | Article |
| Language: | English |
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Bioscientifica
2018-07-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-18-0054 |
| _version_ | 1818267838815666176 |
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| author | Yang Timothy Du Angus Rutter Jui Ho |
| author_facet | Yang Timothy Du Angus Rutter Jui Ho |
| author_sort | Yang Timothy Du |
| collection | DOAJ |
| description | 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 to have the common activating mutation of the FGFR3 gene implicated in achondroplasia, indicating that he had the two rare conditions independently, with an extremely low incidence of 1 in 400 million. This, to the best of our knowledge, is the first report of an individual having these two rare conditions concurrently. This case highlights that individuals with achondroplasia should have normal sexual development, and in those presenting with incomplete sexual maturation or symptoms of hypogonadism should prompt further evaluation. We also propose a plausible link between achondroplasia and 46, XX DSD through the intricate interactions between the SRY, SOX9 and FGFR9 gene pathways. |
| first_indexed | 2024-12-12T20:28:58Z |
| format | Article |
| id | doaj.art-892dc0520c614f65a511a178ab1d6f41 |
| institution | Directory Open Access Journal |
| issn | 2052-0573 2052-0573 |
| language | English |
| last_indexed | 2024-12-12T20:28:58Z |
| publishDate | 2018-07-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj.art-892dc0520c614f65a511a178ab1d6f412022-12-22T00:13:04ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732052-05732018-07-01111610.1530/EDM-18-0054Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare associationYang Timothy Du0Angus Rutter1Jui Ho2Department of Diabetes and Endocrinology, Flinders Medical Centre, Bedford Park, South Australia, AustraliaSchool of Medicine, Flinders University, Bedford Park, South Australia, AustraliaDepartment of Diabetes and Endocrinology, Flinders Medical Centre, Bedford Park, South Australia, AustraliaA 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 to have the common activating mutation of the FGFR3 gene implicated in achondroplasia, indicating that he had the two rare conditions independently, with an extremely low incidence of 1 in 400 million. This, to the best of our knowledge, is the first report of an individual having these two rare conditions concurrently. This case highlights that individuals with achondroplasia should have normal sexual development, and in those presenting with incomplete sexual maturation or symptoms of hypogonadism should prompt further evaluation. We also propose a plausible link between achondroplasia and 46, XX DSD through the intricate interactions between the SRY, SOX9 and FGFR9 gene pathways.https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-18-0054 |
| spellingShingle | Yang Timothy Du Angus Rutter Jui Ho Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association Endocrinology, Diabetes & Metabolism Case Reports |
| title | Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association |
| title_full | Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association |
| title_fullStr | Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association |
| title_full_unstemmed | Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association |
| title_short | Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association |
| title_sort | achondroplasia with sry positive 46 xx disorder of sex development an extremely rare association |
| url | https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-18-0054 |
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