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

Answered by
Dr. Balakrishnan. R
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?



Welcome to

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 -->

Was this answer helpful?


Same symptoms doesn’t mean you have the same problem. Consult a doctor now!

Related Questions:
Is it right to have chemotherapy for stage IV invasive lobular carcinoma?

After chemotherapy, consider doing a maintenance hormonal therapy ...   Read full

Is nasal bone length an indicator of Down's syndrome?

.. bone thickness is relevant only between 11 to 13 weeks pregnant scan where it should be less than 2 mm. Nasal bone thickness at 23 weeks gestation is irrelevant. If the quadruple test shows low risk of Down's syndrome, then amniocentesis is not r...   Read full

What is the management of erectile dysfunction and premature ejaculation?

On any medications or hormonal therapy ...   Read full


Also Read Answers From:

ideaComprehensive Medical Second Opinion.Submit your Case

Also Read

Relation Between Enamel Hypoplasia and Dental Caries
Enamel hypoplasia is due to incomplete or defective formation in the organic matrix, which forms the first layer of the ...  Read more»
Methods to Increase Breast Milk Production
Several measures can help mothers in increasing their breast milk production. Find out the correct way to breastfeed thr...  Read more»
Ingrown Hair: How Can You Prevent and Treat It
An ingrown hair is a hair strand that grows back into the skin after a clean shave or waxing. It appears as a raised dar...  Read more»

Ask your health query to a doctor online?

Ask an Obstetrician & Gynaecologist Now

* guaranteed answer within 4 hours.

Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.