The Use of Genetics for Reaching a Diagnosis in XY DSD
Issued Date
2022-11-01
Resource Type
ISSN
16615425
eISSN
16615433
Scopus ID
2-s2.0-85131593080
Pubmed ID
35636390
Journal Title
Sexual Development
Volume
16
Issue
2-3
Start Page
207
End Page
224
Rights Holder(s)
SCOPUS
Bibliographic Citation
Sexual Development Vol.16 No.2-3 (2022) , 207-224
Suggested Citation
Faisal Ahmed S., Alimusina M., Batista R.L., Domenice S., Lisboa Gomes N., McGowan R., Patjamontri S., Mendonca B.B. The Use of Genetics for Reaching a Diagnosis in XY DSD. Sexual Development Vol.16 No.2-3 (2022) , 207-224. 224. doi:10.1159/000524881 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/83575
Title
The Use of Genetics for Reaching a Diagnosis in XY DSD
Other Contributor(s)
Abstract
Reaching a firm diagnosis is vital for the long-term management of a patient with a difference or disorder of sex development (DSD). This is especially the case in XY DSD where the diagnostic yield is particularly low. Molecular genetic technology is playing an increasingly important role in the diagnostic process, and it is highly likely that it will be used more often at an earlier stage in the diagnostic process. In many cases of DSD, the clinical utility of molecular genetics is unequivocally clear, but in many other cases there is a need for careful exploration of the benefit of genetic diagnosis through long-term monitoring of these cases. Furthermore, the incorporation of molecular genetics into the diagnostic process requires a careful appreciation of the strengths and weaknesses of the evolving technology, and the interpretation of the results requires a clear understanding of the wide range of conditions that are associated with DSD.