Diagnosing Chromosomal Abnormalities in Males Living in Maryland

by | Jun 28, 2024 | Healthcare

There are two chromosomal abnormalities that only affect males. These are Jacobs Syndrome, having XYY chromosomes or a total of 47 chromosomes instead of 46, and XXY or Klinefelter Syndrome. Because there is a Y chromosome involved, and patients with these conditions always present as male, they are assumed male disorders. In Maryland, there is a 47 XXY syndrome specialist who can help.

What the 47 XXY Syndrome Specialist Can Do

The first step is to take a physical assessment of the patient. In both cases of these two syndromes, the symptoms are present at birth, but they become more obvious with the onset of puberty. Older patients get a confirmed diagnosis of Jacobs or Klinefelter syndrome through genetic testing. Younger patients may also go through genetic testing to see if the chromosomal markers are present.

Once a diagnosis is confirmed, the 47 XXY syndrome specialist can help patients begin treatments. It will not be cured, but it can be helped.

The Biggest Difference Between Jacobs and Klinefelter

When a boy or man has XXY, he ends up with many feminine features, including breast tissue and extra fat in the abdominal region that is harder to lose. That’s not an issue for XYY, nor is sterility or low sperm count.

Men with XXY have low to no sperm counts, requiring testosterone deficiency treatments. Testosterone deficiency treatments can make it possible for patients with Klinefelter to father children. Talk to a specialist at The Focus Foundation via https://thefocusfoundation.org for testing and treatment.

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