Doctor Questions Doctor

XX Male Syndrome?

I am a 21 year old male. I had suspicions of an intersex condition or disorder of sex development. My testosterone was always low since I started puberty. I have a micropenis. I have become infertile. I started hormone therapy (estrogen and spironolactone) to transition from male to female. However, I do not believe the hormones caused my infertility because I was infertile long before I started hormone therapy. I took a karyotype test to see If I had XX Male Syndrome or if I had a chromosome abnormality (translocation). The results came back that I was XY, however, the G-banding that was used was not high enough, therefore, the chromosome abnormality probably was not detected or the laboratory used was not a reliable one (I used LabCorp). Should I retake the karyotype test using a higher G-banding resolution? What laboratory is the most reliable in the country besides LabCorp? Should I just go to the hospital to get my labs done?

Male | 21 years old
Conditions: De La Chapelle Syndrome

2 Answers

Quest is excellent, but you should go to the nearest University or academic hospital to be properly worked up.
If you have not already, you should see an endocrinologist. They can help sort all this out for you and look at the tests you have had done so far and recommend additional tests if needed.