A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.
Annelore Van Der KelenÖzlem OkutmanElodie JaveyMünevver SerdarogullariCharlotte JanssensManjusha S GhoshBart J H DequekerFlorence PeroldClaire KastnerEmmanuelle KiefferIngrid SegersAlexander GheldofFrederik J HesKaren D SermonWillem VerpoestStéphane VivillePublished in: Human reproduction update (2023)
We have comprehensively reviewed the existing research on the genetics of female infertility and DSD, which will enable the development of diagnostic panels using validated genes. Whole genome analysis is shifting from predominantly research to clinical application, increasing its diagnostic potential. These new diagnostic possibilities will not only decrease the number of idiopathic cases but will also render genetic counselling more effective for infertile patients and their families.
Keyphrases
- genome wide
- end stage renal disease
- polycystic ovary syndrome
- endothelial cells
- ejection fraction
- copy number
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- genome wide identification
- dna methylation
- gene expression
- type diabetes
- patient reported outcomes
- skeletal muscle
- metabolic syndrome
- insulin resistance
- genome wide analysis
- antiretroviral therapy
- hiv testing
- clinical evaluation