Self-Esteem and Social Adjustment in Young Women with Turner Syndrome—Influence of Pubertal Management and Sexuality.

TURNER SYNDROME AFFECTS 1 in 2500 females and results from the total or partial absence of one of the X chromosomes. The principal features of Turner syndrome are short stature, dysfunctional gonads, cardiac and renal malformations, otological problems leading to hearing impairment, and dysmorphic features of various severities. Treatment has focused on height. GH treatment increases adult height, as shown by a randomized controlled study, confirming earlier reports. However, the height gain is quite variable and its clinical significance is a matter of debate. Pubertal development must be induced by drug treatment in girls with Turner syndrome presenting primary ovarian failure. Many studies have considered the effects of this management of puberty on height but little is known of its effects on the initiation of sexual activity and its impact on psychosocial functioning.

As for all chronic diseases of childhood, the medical treatment of Turner syndrome should aim to reduce the impact of this condition on psychosocial functioning, in both childhood and adulthood. However, the impact of management on psychosocial outcomes has not been systematically evaluated for Turner syndrome. In a previous study, we observed that health-related quality of life was similar in adult women with Turner syndrome treated with GH in childhood and the general population. We identified several components of the disease or consequences of medical management as factors associated with low health-related quality of life scores: cardiac and otological involvement, induction of puberty after the age of 15 yr, and higher expectations from GH treatment. In contrast, height or height gain from treatment had no influence. Other aspects of psychosocial functioning, such as self-esteem and social adjustment, have not been systematically evaluated in patients with Turner syndrome. It is therefore important to analyze the influence of management options in childhood on these dimensions to help pediatricians make the best choices concerning the management of their patients.

The factors determining the onset of sexuality in humans are poorly characterized, and attention has mostly focused on behavioral, environmental, and psychosocial determinants. The timing of puberty affects the onset of sexuality in the general population. Several medical interventions affect the timing of puberty, but their effects on sexual behavior have not been studied. Estrogen replacement in hypogonadal girls has a modest short-term effect on sexual behavior. Therefore, Turner syndrome, in which puberty is medically induced in most cases, provides a model to investigate the influence of the timing of puberty on the onset of sexuality.

Discussion

This is the first study to investigate the factors influencing self-esteem, social adjustment, and sexuality in a population-based cohort of women with Turner syndrome. Its results indicate that, in young women with Turner syndrome: 1) otological involvement and limited sexual experience are associated with lower self-esteem; 2) lower paternal socioeconomic class and an absence of sexual experience are associated with poorer social adjustment; 3) age at first kiss or date is related to the spontaneous occurrence of puberty and the presence of cardiac abnormalities; and 4) age at first sexual intercourse is related to age at puberty and paternal socioeconomic class. Our study has implications for the management of patients with Turner syndrome, pubertal disorders, and, more generally, chronic illnesses of childhood.

Self-esteem was found to be low in several clinic- or support group-based samples of patients with Turner syndrome. However, these studies were not population based, included patients from a wide range of age groups without taking age into account, and did not analyze factors associated with self-esteem and those related to pediatric care in particular. Ross et al. suggested that the initiation of estrogen therapy was directly associated with an increase in self-esteem in 16-yr-old adolescents with Turner syndrome.

Participants in our study were a mean of 6 yr older than the patients in Ross’s study. This may account for our finding no effect of age at the onset of puberty on self-esteem. We demonstrated that otological involvement was a major, unrecognized factor affecting self-esteem, suggesting that ear infections during childhood should be aggressively managed. The other main factor associated with self-esteem was sexual experience, which increased self-esteem. Overweight was associated with lower self-esteem as also reported in the non-Turner population. The strong association between GHQ-12 scores and self-esteem illustrate the fact that psychological distress and self-esteem are strongly interrelated. Inclusion of GHQ-12 scores in the explanatory models of self-esteem determinants allowed us to adjust for the level of psychological distress and decrease the risk of false-positive relationship in the multivariate analysis.

Previous clinic-based studies based on small samples have reported that Turner syndrome patients have a limited social life, with satisfactory adjustment to this situation. A high proportion of older individuals with Turner syndrome are reported to hold university degrees and be employed below their academic level. We found that sexual experience affected social adjustment, but, in contrast to what was observed for self-esteem, kissing or dating experience had an all-or-nothing effect. Sexual experience before the age of 20 yr was negatively associated with social adjustment at work, even after adjustment for educational level. Similarly to self-esteem, inclusion of the GHQ-12 score in the models allowed to adjust for the level of psychological distress.

Our findings concerning the effect of sexual experience on psychosocial adaptation led us to investigate the factors associated with the initiation of sexual activity. Individuals with Turner syndrome are known to have their first sexual experience later, to be less likely to establish a steady relationship with a partner, and to be less sexually active than women from the general population. One study, including 80 women with Turner syndrome and a mean age of 34 yr, reported that 55% of these women had experience of sexual intercourse, with a mean age at first intercourse of 23 yr.

In our study, 30% of the participants had had sexual intercourse by the age of 20 yr vs. 85% of women of the general population in France at the same age. Cardiac involvement was associated with dating beginning later, as would be expected given the severe adolescent morbidity associated with cardiac involvement. Age at the onset of puberty and type of puberty (spontaneous vs. induced), two closely related variables, were associated with age at first kiss or date. Differences were primarily associated with sustained spontaneous ovarian activity and persisted well after the age of 18 yr, when all participants had been exposed to estrogens. Androgen levels are reportedly low in adult women with Turner syndrome, and androgens play a role in female libido. It would therefore be of interest to evaluate the possible effects of androgen substitution on the initiation of sexual activity and psychosocial components in adolescents with Turner syndrome.

Daughters of manual workers tended to be older than daughters of non-manual workers at the time of first sexual intercourse, whereas in the general population, women from families with a low socioeconomic status tend to have sexual intercourse earlier. This suggests that in patients from families with a higher socioeconomic status, the influence of Turner syndrome on relationships with the opposite sex is somewhat limited by coping strategies. Therefore, psychological counseling should particularly focus on women from lower socioeconomic status families. Age at puberty affected age at first sexual intercourse, and this effect persisted at least until the age of 25 yr when pubertal development had been underway for at least 7 yr in all girls. It is not possible to distinguish between psychosocial (i.e. having an age-appropriate physical development and therefore a better interaction with peers) and biological effects (i.e. a direct effect of sex steroids on the brain) based on our data.

Nevertheless, our findings suggest that there may be a time window during which sex steroids must act on the brain at puberty to facilitate sexual behavior. Indeed, most studies in animal models (for male animals in most cases) have suggested that there is such a time window and that the consequences for sexual behavior of a lack of gonadal hormones during adolescence are irreversible.

Height and dysmorphic features were not associated with self-esteem and social adjustment, consistent with our results on health-related quality of life and calling into question the value of GH treatment. Furthermore, the lack of effect of height and dysmorphic features on sexual experience should help patients and health care providers to fight existing prejudices.

Several methodological aspects merit consideration. First, there may be differences regarding the studied outcomes between the patients who did not participate in the study (31%) and those who did. Nevertheless, we obtained a response rate of 69%, which is within acceptable standards for an unsolicited nominative questionnaire. Second, self-esteem and social adjustment measures might have been too crude to evidence small differences. However, the validity and reliability of the SAS-SR and SEI questionnaires have been well established, and these instruments have largely been used in nonpatient populations and in diverse psychiatric samples in both English and French. Third, our study included only young adult patients with Turner syndrome who were living in France and had been treated with GH. Some conclusions may thus not be applicable to non-GH-treated patients or in different cultural contexts. Last, some of the observations regarding the influence of sexual life on psychosocial adjustment are probably not specific to Turner syndrome and should be evaluated in other patient and nonpatient groups.

The validity of Turner syndrome as a model for studying the influence of the timing of puberty on the initiation of sexual activity and its psychosocial consequences could be questioned. However, our findings call into question several practices in which pubertal timing is manipulated, generally as a means of controlling height. High-dose estrogen treatment is used to reduce height and GnRH agonists are used to increase it. Our data suggest that the long-term consequences of these interventions may extend well beyond the intended effect, calling into question the value of their continued use.

We conclude that puberty should be induced at a physiologically appropriate age in patients with Turner syndrome to optimize self-esteem, social adjustment, and the initiation of sexual activity. Psychological support and counseling should be offered to patients, focusing particularly on those from families with a low socioeconomic status. Our findings show that the long-term analysis of carefully followed cohorts of patients with chronic childhood diseases can bring to light unexpected observations that might improve pediatric care. They also call into question the use of drugs affecting the timing of puberty in patients with spontaneous puberty that would otherwise occur at a normal age.