Phenotypic aspects and their emotional impacts on subjects with Turner syndrome and their parents

Abstract

The present article aims to offer Turner Syndrome subjects and their families some orientations related to possible emotional difficulties during their development. Thus familiar constitution is highlighted for its importance. Turner Syndrome (TS) etiology is genetic, associated to partial or total monosomy of X chromosome. TS are prevalent in women and is generally diagnosed during adolescence.1,2 TS subjects and their parents usually experience challenging times when they are informed about the diagnosis. Parents feel breaking expectations of the ideally imagined child. TS girls, teenagers and women may also feel the painful losses they may be in contact with. Frustration and deception reactions are associated with such moments and are equivalent to mourning feeling. Other feelings may arise needing support to elaboration and emotional overcome. We resort to Winnicott's ideas for presenting a solid psychoanalytic theory that presents a comprehensive reading of situations with the purpose of guidance. Considering the genetic profile, a great phenotypic variability can occur, with the most frequent characteristics of TS being: short stature, obesity, infertility due to the decline of ovarian reserves and comorbidities such as hypothyroidism, osteoporosis. Different cognitive changes may occur.2 These elements justify the need for specialized work such as that of the psychologist and the psychopedagogue. By relating the emotional impact of these issues, it is suggested the development of a Guide to help families and TS subjects.