Objectives: To compare the cases of phenotypic female patients that presented with male karyotype and the histopathological examination (HPE) results of their gonads.

Methods: A retrospective review of five cases of 46 XY female patients that were managed by the Paediatric and Adolescent Gynaecology (PAG) unit, Department of Obstetrics & Gynaecology of UKM Medical Centre from 2009 to 2017, were conducted.

Results: These patients, with female phenotypes, presented in adolescence or early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development, another was very short with multiple co-morbidities, one had clitoromegaly and the other three had no secondary sexual characteristics. They were examined and had karyotyping and hormonal profiles done with ultrasound and MRI. Gonadectomies were performed once their 46 XY karyotype were confirmed. Histopathological examinations of their gonads were performed and the results varied from dysgenetic gonads to having testicular tissue to malignancy. All five had female gender identities and were given hormonal treatments and were counselled on fertility. One had a clitoroplasty performed.

Conclusion: Female patients with 46 XY karyotypes require gonadectomies done at different timings depending on their diagnoses and gender identities. Risk of malignancy of their gonads need to be ascertained. Pubertal induction need to be managed. Issues such as fertility and gender identity need to be addressed. The managing team need to be sensitive in managing these rare cases as the diagnoses can be psychologically devastating.

Keywords: 46 XY Female, Disorder of Sexual Development (DSD), Gonadal Dysgenesis, Swyer Syndrome, Androgen Insensitivity Syndrome, mixed gonadal dysgenesis, delayed puberty, paediatric and adolescent gynaecology