Care of women with XY karyotype: a clinical practice guideline.
OBJECTIVE
To provide an evidence-based guideline for professionals working with XY women.


METHODS
Review including patient cases from a Danish fertility clinic.


METHODS
University-associated scientific unit and fertility clinic.


METHODS
Three selected cases.


METHODS
None.


METHODS
Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women.


RESULTS
Many gene mutations can cause abnormal fetal development leading to androgen insensitivity syndrome or gonadal dysgenesis disorders. Females with these disorders have an XY karyotype but look like girls. They are mostly diagnosed at puberty, and the condition will often lead to serious psychological problems. Increased risk of malignancies and problems with pregnancy and infertility are other aspects that should be considered. This guideline will aid doctors in caring for XY females.


CONCLUSIONS
A precise diagnosis is important, because the treatment possibilities (e.g., use of allogenic oocytes) depend on the subgroup to which the XY female belongs.
Laboratory of Reproductive Biology, Scientific Unit, Horsens Hospital, Horsens, Denmark.
Pernille Bach
PB
Jorgensen
Kristín Rós
KR
Kjartansdóttir
Jens
J
Fedder
D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000818:Animals; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D007247:Infertility, Female / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007621:Karyotyping; D008297:Male; D005791:Patient Care / Q000379:methods / Q000592:standards*; D017410:Practice Guidelines as Topic / Q000592:standards*