in this issue
Sonja Kristiansen, MD
Medical Director & co-founder
of
the Houston
Infertility Clinic, Dr. Kristiansen is double board
certified
in
Reproductive
Endocrinology and Obstetrics & Gynecology and
specializes in surgical and IVF procedures.
She has
advanced training in hysteroscopy, laparoscopy, and
microtubal reconstruction. She also works with
female endocrine abnormalities relating to
menstrual and reproductive development.
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Greetings,
For some people, the inability to get pregnant has little
or nothing to do with lifestyle choices or coordinating
the scheduling of intercourse with ovulation. There are
several genetic conditions that can cause infertility. In
many cases, the affected individual remains unaware
of such conditions' existence until they try to conceive
and cannot.
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Male Conditions
Men with Klinefelter syndrome have an extra X
chromosome, so that instead of the usual XY pattern,
theirs is XXY. It is believed to be a very common
chromosome abnormality; possibly occurring in as
many as one in 500 men. Most men with Klinefelter
syndrome are infertile due to their bodies not
producing sufficient quantities of sperm.
Y chromosome microdeletion is a term that
refers to small portions of the male chromosome
being deleted or missing. It can result in low to zero
sperm production.
Myotonic dystrophy can result in
underdeveloped testicles with abnormal sperm
production.
Some men who carry the gene that causes cystic
fibrosis, a dangerous and chronic lung disease, also
have congenital bilateral absence of the vas deferens
(CBAVD). The vas deferens is part of the
tubular transport system that propels sperm cells
from where they are produced to the urethra.
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Female Conditions
Turner syndrome is due to the absence or
abnormality in one of the X chromosomes.
Having three X chromosomes can both cause
infertility and lead to offspring with other genetic
disorders.
Some women with a PCOS diagnosis have a
related genetic condition called non-classical
adrenal hyperplasia. If the male partner carries
the gene for the same condition, resulting offspring
can have life-threatening abnormalities.
Chromosomal translocations, that is, a
rearrangement of the 46 chromosomes in either or
both partners can result in abnormally developing
embryos which are then lost via miscarriage.
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How to Know
The unfortunate truth is that many fertility-impacting
genetic conditions are invisible -- in most cases, there
are no outward signs of such conditions.
Couples who already know about genetic conditions
in their families can benefit from genetic counseling
and testing. For those who have no such knowledge,
testing can sometimes clear up the mysteries of
recurrent first trimester miscarriages, lack of sperm
with normal physical exam, and premature
menopause.
Also, couples from certain ethnic and racial groups
can learn through testing whether or not they carry
certain genetic conditions such as cystic fibrosis, Tay-
Sachs disease, sickle cell anemia, and others.
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What to Do
If you already know that you're at risk for possible
genetic conditions, we will refer you immediately for
testing. Genetic testing simply requires blood draws.
Some people will decide to test after first trying fertility
treatment or after experiencing miscarriage.
The good news is that there are several very
successful forms of assisted reproductive technology
that can help people with genetic conditions get
pregnant and have a healthy child. In addition to
genetic testing of the parents, we can provide
additional confidence with preimplantation genetic
diagnosis (PGD) and IVF.
I encourage you to research your family history, ask
questions, and bring your concerns to our office visits.
Together, we can determine if genetic testing and
related counseling is in the best interests of you and
your hoped-for child.
Sincerely,
Sonja B. Kristiansen, MD
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