Aspectos psicossociais da síndrome de Turner

Abstract

RESUMOA síndrome de Turner (ST) ocorre em aproximadamente 1:2.130 nativivos do sexo feminino e os sinais clínicos mais importantes são a baixa estatura e a disgenesia gonadal, levando a amenorréia primária, atraso no desenvolvimento puberal e esterilidade. Podem ser observadas, também, anomalias congênitas e adquiridas e uma grande variabilidade de sinais dismórficos. Assim, a presença de tantos sinais e sintomas, bem como a magnitude dos mesmos pode causar graves conseqüências no funcionamento psicológico e social das pacientes com ST. O objetivo deste artigo consiste numa revisão de literatura a respeito dos aspectos psicológicos da ST. As principais áreas abordadas são: impacto psicossocial da baixa estatura, do atraso no desenvolvimento puberal e da infertilidade, auto-estima, aspectos sociais, identidade de gênero, relacionamentos amorosos e funcionamento sexual, relações familiares, funcionamento cognitivo, doenças psiquiátricas e a presença de uma "doença crônica". Considerações gerais para o acompanhamento psicológico dessas pacientes também são discutidas. ABSTRACTTurner Syndrome: Psychosocial Aspects. Turner syndrome's (TS) incidence is about 1:2,130 live female births and its most important clinical features are short stature and gonadal dysgenesis, leading to primary amenorrehea, delayed pubertal development and infertility. Congenital and acquired anomalies and a great variety of dismorphic signs can also be observed. Thus, many characteristics and symptoms may have bad consequences in the psychosocial aspects of the patients with TS. The objective of this paper is to review the literature on psychosocial aspects of TS, mainly the psychological effect caused by short stature, delayed pubertal development and infertility, self-esteem, social aspects, gender identity, sexual functioning, love relationships, family relationships, cognitive functioning, psychiatric diseases and the presence of a "chronic disease". General remarks on psychological follow-up of the patients are also made.

Sexuality and sickle cell anemia

“…When puberty does not happen near the age of their peers, patients feel different and isolate themselves, at a time of life when social acceptance is of great importance. Feelings of inferiority and immature behavior have also been reported in respect to pubertal delay ( 11) . Advances in the medical knowledge of SCA over the last ten years have increased the life expectancy of these patients ( 10) .…”

Turner syndrome patients’ ultrasound profile

“…Most of the Turner syndrome patients will develop ovarian insufficiency [1][2][3][4][5] and will need hormone replacement therapy (HRT) to induce and/or maintain secondary sexual development, promote bone health, and prevent cardiovascular disease and psychosocial disturbances [6][7][8]. However, studies on the field are still inconclusive regarding the optimal estradiol replacement therapy, or even routes of administration, starting age, its benefits, or disadvantages [9][10][11][12][13].…”

Effect of chromosome constitution variations on the expression of Turner phenotype

“…This unusual clinical presentation is related to the deficiency in inactivating this tiny r(X) due to the absence of the X-inactivation center, causing the disomy of several genes, which alters the dosage compensation mechanism. The preferably inactivated r(X) is therefore associated with normal intelligence (El Abd et al, 1999;Suzigan et al, 2005). Thus, the mental retardation observed in 5 TS cases in our study was a very uncommon feature, since their karyotype did not show the tiny r(X).…”