Category: Chromosomal Abnormality

A Typical Genetics Consultation

genetics consultation

What to Expect with a Genetics Consultation

The goal of a Genetic Consultation can be for Diagnostic, Disease Management and Optimization or Counseling purposes.  As we learn more about the role of genes and their contribution to birth defects, diseases, disease risks, and medication metabolism (pharmacogenetics), we can use this information to provide Personal Medicine and Precision Medicine.

Before the Genetics Consultation or Genetics Visit

A Genetics Consultation is more involved than a typical medical office visit.  To assess the role of Genetics in the disease process, we need a lot of information in order to make the most of your visit.  Typically, visits may last from 60-90 minutes.

Before the appointment:

  • Write down your main questions and what you would like answered
  • In advance, please have your medical records sent to us so they can be reviewed prior to your visit
  • Please ask your family members and get as much family health history as possible
  • Please bring all of your medications or a list of them with dosages

What to Expect during your Visit

  • A review of your Medical History
  • A review of your pregnancy and childhood history
  • A review of your developmental history
  • A review of your family history
  • A Physical Examination
  • A review of your Laboratory testing, x-ray studies and any other testing you may have performed

Genetic Counseling

Depending on your condition and the reason for your visit, anticipate that we may begin the education process to help you understand the:

  • Role of genes and heredity in contributing to the disease process
  • Risk of disease manifestation and disease recurrence and risk of transmission to other family members
  • Different testing options and the advantages and disadvantages of each
  • Prognosis and options for management

For more information about our Genetics Consultation services, please contact us at 855-474-8522

To refer a patient for Genetics Evaluation Services, please fax a Referral Request to 877-465-6936

Genetic Medicine Clinic | TeleGenetics |Personalized Medicine | 352-235-9636

Testosterone in XYY Syndrome

Testosterone in XYY

How and When to Supplement with Testosterone in XYY Syndrome

We recently had a patient with XYY Syndrome.  XYY syndrome is a rare chromosomal abnormality that affects males.  There are many misconceptions about this disorder.  Our patient recently went to see his Primary Care Doctor who decided NOT to treat with Testosterone because the patients total testosterone was low normal.  No further testing was performed.

One of my medical school professors once told me: “You treat the patient, NOT the numbers,” and this patient is a great example.  Despite his low-normal levels of testosterone, upon talking to him further, he reported that he had a number of symptoms.  He had difficulty focusing and had some impulsivity (both seen in patients with XYY syndrome). Getting some childhood history, he was very tall but had delayed onset of puberty.  He had gynecomastia (breast development despite significant weight training) and small testes.  He reported issues with libido and problems with both erection and ejaculation.

For this patient, it is important not to “chase the numbers” but to provide treatment titrated to his symptoms. The goal is a level of free and bioavailable testosterone at the mid to mid-high levels of normal measured at a trough level (right before an injection).  There is no medical evidence to support this but the goal is to achieve a level that would be physiological and that would result in a physiological response in men (that don’t have XYY  or a chromosomal abnormality). The goal is to maintain testosterone levels at this mid level so depot forms of testosterone given every other week intramuscular is a good starting point but most patients require more frequent dosing.  I often suggest 200 mg every 10 days or every 7 days.  Most of the intramuscular preparations of testosterone are oil based so there is little difference between them in terms of efficacy.  Often, testosterone injections can be supplemented with topical testosterone gel, cream or foam.  This prevents severe troughs and a higher baseline level.  Also subcutaneous testosterone can be considered and there is much medical data that subcutaneous injection of the same dose but divided over a few days can result in better long-term maintenance.

Author: Dr. Maulik Shah

Genetic Medicine Clinic | TeleGenetics |Personalized Medicine | 352-235-9636

 

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