Quality of life of patients with 46,XX and 46,XY disorders of sex development

Abstract

SummaryDisorders of sex development (DSD) result from abnormalities in the complex process of sex determination and differentiation. An important consideration to guide the assignment of social sex in newborns with ambiguous genitalia is the quality of life (QoL) of these patients in adulthood. The rarity of most DSD conditions makes it difficult to conduct a long-term follow-up of affected patients through adulthood. This review of papers on the QoL of DSD patients evaluated in developing and developed countries by qualitative and quantitative instruments revealed a large spectrum of QoL, ranging from very poor to similar to, or even better than, the normal population. A more adequate QoL was found in patients from tertiary centres, indicating that the medical care of DSD patients should be multidisciplinary and carried out by specialized teams.

Disorders of sex development: advances in genetic diagnosis and challenges in management

“…Involving patient support groups in the assessment of medical interventions and seeking for more evidence on the long-term outcome of quality of life are both essential. 44,83 The children should participate in decisions that affect them now or later and they should be comprehensively informed about their condition. 57 Children who are informed and educated about their condition will have better opportunities to develop adaptive coping skills, including development of a positive self-image and expectations for a fulfilling adult life.…”

Management framework paradigms for disorders of sex development

“…The role of surgery has been changing together with these new demands; there are accounts of cases in the literature that were poorly conducted in infancy, and others that have benefit from corrective surgery (3,40,51,52). It is understood that it is always important to give parents advice as to the benefits and risks of surgery, clearing out all procedures possible.…”

“…In order to reach that same objective, specialized centers have been oriented towards dealing with psychosocial and psychosexual aspects. These aspects are related to: a) assessing gender assignment; b) the moment of medical interventions, as well as their results and consequences; c) sexuality and sexual orientation, d) information management (how patients should know about their diagnosis) and, e) quality of life (11,12,32,51,52,54). In order to handle these aspects, favoring the development of patient's and family's autonomy, according to Brian and Hiort (55,40), it would be important that the specialized centers for DSD combined with guarantee that the information from childhood have a continuity until adult life, thus avoiding that these subjects be fragmented within different services.…”

“…Amaral and cols. (52) analyzed nine studies on the theme, which showed, both in developed and developing countries, that the evaluation of the quality of life varied from "very poor" to "similar to the normal population" or even "better than the normal population". However, patients who were treated later on in life had the most jeopardized quality of life (52).…”

Avaliação da qualidade de vida de pacientes adultos com distúrbio do desenvolvimento sexual (DDS) 46,XX e 46,XY em uma larga coorte de um único centro terciário

“…Foi realizado uma revisão sistemática e mais abrangente, incluindo os pacientes com DDS 46,XY, levantando artigos que avaliaram a qualidade de vida destes pacientes tanto pelo método qualitativo quanto quantitativo (Anexo B) [83] . Em resumo, a avaliação de trabalhos sobre qualidade de vida de pacientes com DDS avaliados, em países em desenvolvimento e desenvolvidos, por instrumentos qualitativos e quantitativos, revelou um grande espectro na qualidade de vida, variando a qualidade de vida de muito pobre à semelhante ou até melhor do que a da população normal.…”