Q. My sister's report shows 46, XY chromosome. What does this mean?

Answered by
Dr. R Balakrishnan Menon
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on Apr 29, 2017 and last reviewed on: Oct 09, 2018

Hi doctor,

My sister is 18 years old, and she has never had periods. Recently, we did a test which said, 46, XY (20), 20 cells were counted, all cells showed 46 chromosomes. Small chromosomal anomalies and small clonal population may not be detected using the standard methods employed. Could you please explain what does it mean? What can be done for her? Will she be able to have kids?

Dr. R Balakrishnan Menon

Infertility Obstetrics And Gynaecology


Welcome to icliniq.com.

How are you doing? This is a tough condition to explain, but let me try.

46 chromosomes mean the total number of chromosomes is normal. For a normal female, the sex chromosome should be "XX". "XY" means male. So, your sibling who is looking as or phenotypically female is actually or genotypically a male.

This is mostly androgen insensitivity syndrome, where genetically she is male, but her body tissues are not sensitive to the male or androgen hormone so that he will appear as female.

All of us are born as females in mother's womb, but which hormones we are exposed to, based on the genes, we get converted to male or stay as female. But in your sibling, the gene is a male, but his body receptors for this male hormones is not effective, so will continue to be female.

  • You can repeat the karyotyping at a different center to confirm. You can have a scan of the abdomen and pelvis to look for what the internal organs are. As per this report, there should be no uterus, that is the reason for no periods.
  • She will need evaluation, hormonal management, few surgical reconstruction, and a lot of counseling.

For further queries consult an obstetrician and gynaecologist online --> https://www.icliniq.com/ask-a-doctor-online/obstetrician-and-gynaecologist

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