ABSTRACT
Turner syndrome is a common genetic disorder that has been classically associated
with a 45,X karyotype. Several X-chromosomal abnormalities have been identified in
these patients, many of which involve mosaicism. These patients have variable but
predictable phenotypic findings and are at risk for development of endocrine, autoimmune,
and structural abnormalities. As many as 1.5% of the population with Turner syndrome
may develop dissection and rupture of the ascending aorta; the presence of abnormalities
of the cardiac tree and hypertension increase this risk, but their absence does not
preclude it. Rupture has occurred at aortic diameters smaller than previously reported
for other patient populations. Five percent or more of women with Turner syndrome
may have abbreviated menstrual function before developing amenorrhea and hypergonadotropic
hypogonadism. An estimated 1 to 2% of all patients may become pregnant. Only three
patients with Turner syndrome (and two of them with streak ovaries) have ever been
reported to become pregnant after developing amenorrhea and elevated gonadotropin
levels. Pregnancy, either spontaneous or more commonly from donor oocyte, increases
maternal mortality rate for these women by an estimated ≥100 fold. It appears that
all Turner women are at risk of rupture; neither prior spontaneous menses nor age
>30 years provides protection. In addition, the literature suggests that the physiological
changes of pregnancy may increase the risk of rupture in future years after delivery
for those Turner women who seemingly made it safely through pregnancy. The use of
the term primary ovarian insufficiency (POI) for Turner syndrome gives me some discomfort. For women with 46,XX hypergonadotropic
hypogonadism, POI accurately provides the suggestion that follicular depletion is
often not complete (although remissions are usually self-limiting and the vast majority
of patients will not spontaneously become pregnant). I clearly understand the need
to prevent any stigmatization to patients unfortunately diagnosed with premature oocyte
depletion, and I believe that the use of the diagnosis POI leaves the door open for
the occurrence of reproductive function and for the 5 to 10% of 46,XX patients who
may spontaneously become pregnant. However, the world literature reports only two
women with Turner syndrome, hypergonadotropic amenorrhea, and streak ovaries who have
ever become pregnant spontaneously after their diagnosis. It would be unfair to such
women with Turner syndrome to give them the same hope for pregnancy as we do for women
with 46,XX POI. Amenorrheic women with Turner syndrome truly have ovarian failure.
Although I have adopted the term POI in this article for women with Turner syndrome, semantics are no substitute for honest,
thorough, and compassionate counseling.
KEYWORDS
Turner syndrome - gonadal dysgenesis - aortic dissection - 45,X
REFERENCES
SHOX is involved in skeletal abnormalities in Turner syndrome.
Hum Mol Genet.
2000;
9
(5)
695-702
SHOX : implications for the development of Turner syndrome.
J Clin Endocrinol Metab.
1999;
84
(12)
4613-4621
Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence
for conserved function in oogenesis and implications for human sterility.
Am J Hum Genet.
1998;
62
(3)
533-541
Richard.H.Reindollar@Hitchcock.org
