I am seeking information about evidence in the family of Turner's
syndrome (or a variant).
Hello Andrea,
There is circumstantial evidence in my line of male infertility, but I
don't recall any case of female infertility. When I say "my line", I mean
Freeman Chamblee (grandson of Robert of Wake) m. Carilda O'Neal, on down,
in Mississippi. I don't have the cause, but I'd be interested in talking to
any others of you who may have this in their line.
Bobbe
Turner's is a genetic condition that is difficult to pass on
because it
interferes with fertility in women, especially after age 30 or even age
20. It may be in the Chamblee/Chamlee line, or may be from collateral
relatives, or even a spontaneous deviation. I met a Chamblee who was
active in infertility and adoption issues, which makes me think other
Chamblee/Chamlee's might be affected. Also, while there are not Turner
chapters in every state, they are in South Carolina, Georgia, Tennessee,
and Alabama, which indicates its prevalence there.
True Turner's syndrome children usually experience stunted growth. The
average adult height of a woman with this condition is 4'8 or 144 cm.
Many don't enter adolescence, and don't develop adult sexual
characteristics without medical intervention. However, this does not
seem to be the case in this variant (also called a mosaic). Growth
hormone shots have been approved to address the cosmetic problems,
although it is not a cure.
Due to the ovarian failure, osteoporosis and heart disease is a problem.
Other physical signs include a webbed neck, and cleft palate (a split in
the roof of the mouth), which can cause a misshapen face such as a split
lip (unflatteringly known as a hare-lip). This cleft often leads to
extraordinarily deep-set eyes. These traits may be evident from photos
or descriptions.
Male Chamblees with this trait presumably would not develop fully and
the mother would miscarry. Because Turner's has not been fully expressed
(as a variant or mosaic), the geneticist is unsure if this would always
be the case. Information of unusual numbers of miscarriages might be
relevant.
Is anyone aware of any reference to, or evidence of, Turner's, or
infertility, premature menopause, or adoptions in the past or present
Chamblee/Chamlee line? Or of those physical characteristics I described?
For more information, I have attached a Fact Sheet from
http://www.turner-syndrome-us.org/
Andrea Chamblee
achamblee(a)clmcintosh.com
Turner's Syndrome Society of the US
Turner Syndrome Fact Sheet
* Turner syndrome is a chromosomal abnormality within the female
population, affecting approximately 1 in 2500 live female births. There
are about 60,000 females in the United States with this condition.
* Turner syndrome is caused by the absence of, or a structural
defect in, one of the two normally present X chromosomes found in
females.
* Short stature is the most visible characteristic of Turner's
syndrome. The average adult height of a woman with this condition is 4'8
or 144 cm. Studies indicate that final adult height can be improved
through daily injections of human growth hormone, beginning as early as
pre-school and continuing through adolescence. The U.S. Food and Drug
Administration approved use of human growth hormone as a treatment for
Turner's syndrome in December of 1996.
* Most women with Turner syndrome experience ovarian failure.
Since the ovaries normally produce estrogen, TS girls and women lack
this essential hormone. Most women and girls with Turner syndrome must
take some form of hormone replacement therapy in order to develop
secondary sexual characteristics.
* Most women with Turner syndrome also are infertile. Because the
uterus is functional, in-vitro fertilization or gamete intrafallopian
transfer (GIFT) is an option for Turner's women.
* Other medical and physical features may be related to this
condition. Some, such as aortic valve problems, coaretation of the aorta
and dilated aortas are more serious, while others, like a webbed neck,
are more cosmetic. Most of these problems can be either managed or
corrected with proper medical treatment or surgery.
* Turner syndrome DOES NOT affect intelligence. Individuals with
Turner syndrome typically have IQ's within the normal range, and they
are at no greater risk for being mentally retarded than anyone else.
There is a tendency for poor spatial perceptual abilities, however.
* Diagnosis of Turner syndrome is confirmed by a blood test called
a karyotype, a chromosome study.
* Turner syndrome was first identified by Dr. Henry Turner in
1938; the chromosomal deficiency was discovered in 1959.
The Turner's Syndrome Society of the US
1313 Southeast 5th Street, Suite 327
Minneapolis, Minnesota 55414
Tel: (800) 365-9944
www.turner-syndrome-us.org
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