What does an XY chromosome indicate in a female by birth?

Question

Hi doctor,

My sister is 18 years old, and she has never had periods. Recently, we did a test, which said 46, XY (20), and 20 cells were counted; all cells showed 46 chromosomes. Small chromosomal anomalies and small clonal populations may not be detected using the standard methods employed.

Could you please explain what it means?
What can be done for her?
Will she be able to have kids?

Kindly help.

Answer 1

Hi,

Welcome to icliniq.com.

I completely understand your concerns.

A total of 46 chromosomes means the overall number of chromosomes is normal. In a typical female, the sex chromosomes are “XX,” while “XY” indicates male. So, your sibling, who appears or presents as female, is actually genetically male. This is most likely androgen insensitivity syndrome, where a person is genetically male, but their body tissues do not respond to male hormones (androgens), so they develop female physical characteristics.

All of us start developing as female in the womb, but exposure to specific hormones based on our genes determines whether we develop as male or female. In your sibling’s case, the gene is male, but the body’s receptors for male hormones do not function properly, so the body develops as female.

I would recommend repeating karyotyping at another center to confirm these results. A scan of the abdomen and pelvis can help determine internal organ development. Based on this report, your sibling is expected to have no uterus, which explains the absence of menstrual periods.

Moving forward, she will likely need hormonal evaluation and management, possibly surgical reconstruction, and significant counseling to understand and navigate this condition.

I hope this helps.

Kindly revert if there are any queries.

Thank you.