Care of women with XY karyotype: a clinical practice guideline

Abstract

Objective: To provide an evidence-based guideline for professionals working with XY women.

Design: Review including patient cases from a Danish fertility clinic.

Setting: University-associated scientific unit and fertility clinic.

Patient(s): Three selected cases.

Intervention(s): None.

Main outcome measure(s): Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women.

Result(s): 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.

Conclusion(s): 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.