MON-200 Turner Syndrome in Adulthood: How Do These Women Live? A Qualitative Overview

Abstract

Turner syndrome (TS) is a genetic condition caused by partial loss of one of the X chromosomes. The phenotype of TS results from haploinsufficiency for genes located on distal Xp. Major features include short stature, gonadal dysgenesis, primary amenorrhea, delayed pubertal development and infertility. These characteristics may contribute to the stigmatization of the patients, compromising their social interactions and psychological development, resulting in low self-esteem, concentration deficit, aggressive behavior and depression. It is therefore of great importance to understand the psychosocial profile and impact of the diagnosis of TS in the life of these patients. To assess their quality of life (QOL), we applied three questionnaires in 15 adult women with TS: social profile inquiry, Beck Depression Inventory-II (BDI-II), and Brazilian normative data for the Medical Outcomes Study 36-Item Short-Form Health Survey , version 2 (SF-36). We also performed focus groups discussion (n=8) guided by a qualified professional. Their mean age was 31.6 years, 93% were single, 73% lived with their parents,16% completed college and only 46% reported professional occupation. The mean height was 1.47 m (66% used GH, and 90% were satisfied with the treatment). On BDI-II, 30% scored for depression and on SF-36, the lowest performances were in vitality and mental health areas. Focal groups discussion were divided by previous GH use (n=5) or not (n=3). The majority in both groups reported that TS was diagnosed due to short stature (“ I didn’t grow up ”) and it was traumatic (“ At first, you're shocked, even crying ”). There was some knowledge about the disease (“ Something that happens on chromosomes ”), and they reported difficulty in socializing (“ Will I ever have friends? ”), peer rejection (" I'm not going to lie, I was bullied ”) and stigmatization (“ You're short and ugly ”). For those who used GH, the treatment was initially daunting (“ You have to be brave ”), but today they feel satisfied (“ I reached my target height ”). Those who did not use GH demonstrated disappointment (“ For me, it would be like a trophy ”). Both groups showed current feelings of self-acceptance (“ I have a normal life ”), but they manifest discouragement regarding love relationships (“ It’s better to be alone ”). Regarding infertility, some rely on religious beliefs (“ If it is the Lord's will ”) and others are considering adoption (“ I've been thinking about adopting ”). Despite the limited sample size, it was possible to perceive the strong social life limitation concerning interpersonal interaction, professional life and depression. We suggest better attention to a...