SeminarTurner's syndrome
Section snippets
Genetics and prenatal diagnostics
Turner's syndrome affects about one in 2000 liveborn females.1 In about 50% of cases, karyotype analysis of peripheral lymphocytes reveals the complete loss of one X chromosome (karyotype 45,X) whereas the remaining patients display a multitude of chromosomal abnormalities, including part absence of one X chromosome or mosaicism. In 60% of cases it is the paternal X that is lost during meiosis.2 Tissue-specific karyotyping can give divergent results. A few hypotheses have been put forward to
Diagnostic approaches
Most—that is up to 99%11—of all embryos or fetuses with Turner's syndrome are spontaneously miscarried during the first and second trimester of pregnancy. Although monosomy X is not associated with older mothers, the use of prenatal karyotype analysis (by means of chorionic villi sampling or amniocentesis) has led to the identification of an increasing number of Turner's syndrome pregnancies. In addition, regular ultrasound examinations have aided the detection of nuchal cystic hygroma and
Sexual development and fertility
A consistent feature documented in Turner's syndrome is the unambiguous identification with the female sex. The completion of female development may, however, be thwarted by certain factors during adolescence and in adult life; for instance, ovarian failure occurs in most patients, and up to 30% experience late, but spontaneous puberty.21 In only a fraction of these patients puberty and the menstrual cycle continue. Owing to their short stature, young and adolescent patients with Turner's
Growth promotion
Short stature is the most consistent finding in Turner's syndrome. It begins during the prenatal phase and persists after birth, thus resulting in an adult height that is 20 cm below the female average of the corresponding ethnic group.30 The availability of unlimited recombinant human growth hormone has made it possible to conduct carefully designed studies aimed at evaluating the growth response. In the Genentech Turner Study,31 a representative cohort of girls with Turner's syndrome was
Neuropsychological and psychosocial aspects
From clinical experience it can be concluded that most patients with Turner's syndrome are socially well-integrated at all levels. Specific problems, however, have been reported. The first systematic investigations of the personality of girls and women with Turner's syndrome were conducted in the 1970s.38 These studies indicated that some personality traits were common to most patients, and that these patients had a high stress tolerance, a tendency towards overcompliance, a higher degree of
Health problems of adult women
Little information is available about the natural history of patients with Turner's syndrome after childhood. Sybert56 has suggested that, in adulthood, they “opt out” of the medical milieu. Data on the mortality of Danish women have been published.14 The median survival age was 69 years for all patients with Turner's syndrome, but somewhat lower (64·4 years) in those with the 45,X constellation. In comparison with the normal population, these statistics are below the average. In about 50% of
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