The role of electrocardiogram in sex verification in a young adult with primary amenorrhea: a case report.

ABSTRACT

BACKGROUND: The use of electrocardiogram for sex verification in adults is an emerging concept in medicine. It is feasible through the utilization of Ogunlade Sex Determination Electrocardiographic Score. The aim of this study was to use an electrocardiogram to verify the sex of a woman with primary amenorrhea. CASE PRESENTATION We report a case of a 36-year-old woman of Yoruba ethnicity who presented with primary amenorrhea. A physical examination revealed a woman with a feminine appearance characterized by long plaited hair and well-developed breasts. As part of the investigations to unravel the sex status, she had a resting standard 12-lead electrocardiogram which revealed a masculine electrocardiogram pattern with Ogunlade Sex Determination Electrocardiographic Score of 9 (T-wave pattern in lead V1, 3; ST segment in lead V2 or V3, 3; QRS rotation, 2; heart rate of 79, 1). An abdominopelvic ultrasonography done by a radiologist showed absence of uterus, fallopian tubes, and ovaries. When our patient was considered for transvaginal scan, she declined but embraced translabial ultrasound as she claimed to be a virgin. Translabial ultrasonography revealed the presence of undescended hypoplastic testes with associated testicular microlithiasis at the external inguinal rings bilaterally. Karyotyping using a blood sample revealed 46,XY and a sex-determining region Y report showed that the blood sample was positive for the SRY gene confirming the status as male. This synchronized with the initial electrocardiogram evaluation. The testes were later removed. CONCLUSION: This report concluded that an electrocardiogram as a cheap, readily available and non-invasive test has a role in sex verification in young adults with primary amenorrhea.