Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre

Amaral, Rita Cassia; Inácio, Marlene; Brito, Vinícius Nahime; Bachega, Tânia A. S. S.; Junior, Ari A. Oliveira; Domenice, Sorahia; Dénes, Francisco Tibor; Sircili, Maria Helena Palma; Arnhold, Ivo Jorge Prado; Madureira, Guiomar; Gomes, Larissa; Costa, Elaine Maria Frade; Mendonca, Berenice B.

doi:10.1111/cen.12572

Cited by 25 publications

(13 citation statements)

References 30 publications

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“…The study most comparable and relevant to our study was conducted in Brazil [14]. 56 adults with 46, XX DSD of whom seven identified as male and 88 with 46, XY DSD of whom 34 identified themselves as males took part in the single tertiary centre study.…”

Section: Discussionmentioning

confidence: 99%

“…More recent studies about patient-reported QOL in adult people with DSD often lack sufficient sample sizes [6–8], include a mixture of divers diagnoses [9], focus on the more common conditions in 46,XX- or 46,XY-DSD [6, 10, 11], or are hampered by large selection biases [12, 13]. Recently two studies were published that included people with 46,XY DSD living as males; [14, 15] only one included people not identifying as female or male gender as well [15]. Published QOL studies in people with DSD reported inconsistent results for those with sex chromosome conditions [8, 16, 17], and for conditions with a 46,XX or 46,XY karyotype, both in qualitative or quantitative studies [11].…”

Section: Introductionmentioning

confidence: 99%

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Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE)

Rapp

Mueller‐Godeffroy

Lee

et al. 2018

Health Qual Life Outcomes

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BackgroundPrevious studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis.MethodsThe multicentre cross-sectional clinical evaluation (dsd-LIFE) took place in 14 specialized clinics in six European countries. Adolescents (≥16 years) and adults having a DSD condition were included from 02/2014 to 09/2015. The main outcome QOL was measured by the WHOQOL-BREF (domains of physical health, psychological, social relationships, and environment). QOL was compared to country specific reference populations by using unpaired t-tests. Linear regression models explained the additional variance of the diagnosis on QOL.ResultsThree hundred one individuals with Turner Syndrome, 219 with Klinefelter Syndrome (including XYY), 226 with 46,XX CAH and 294 with rare DSD conditions (gonadal dysgenesis, androgen insensitivity syndrome, severe hypospadias, and androgen synthesis errors or other diagnosis) took part. Compared to healthy European populations, QOL was similar in psychological, slightly worse in physical health, and slightly better in environment. In social relationships, QOL was significantly poorer compared to healthy and non-healthy reference populations. In linear regression models health status was the most important predictor of QOL; additional variance was explained by feelings about household’s income in all domains, and the relationship status in social relationships. Diagnosis explained nearly no additional variance.ConclusionsExcept for social relationships, most people with DSD adapt well to their life circumstances and report a good QOL. Not diagnosis, but the individual’s health status is much more important than previously thought. Therefore care for people with DSD should focus more on chronic physical or mental health problems both related and unrelated to the diagnosis itself.Trial registrationGerman Clinical Trials Register DRKS00006072.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE)

Rapp

Mueller‐Godeffroy

Lee

et al. 2018

Health Qual Life Outcomes

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“…Dessouky et al study ( 27 ) presented 186 cases of DSD 46, XY, and 31 had changed their gender to male and this fact was more frequent among those with DEF5α (52%). Cassia et al ( 28 ) studied 96 cases of DSD 46, XY patients and showed that 20% changed their gender to male. In the present study, among the 16 patients with DEF5α, 11 were registered as females and one of them altered his registration to male.…”

Section: Discussionmentioning

confidence: 99%

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

et al. 2015

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The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals.

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“…Women with DSD because of CAH who received genitoplasty reported higher satisfaction with their care than those who did not receive early genital surgery [61]. Girls who received early genital surgery have a good or satisfactory cosmetic outcome, as assessed by healthcare providers, good quality of life, and a low incidence of gender dysphoria as reported by their parents [62,63]. It remains unclear how much harm non-corrected unusual genitalia may cause for an individual and the family.…”

Section: The 46xx Dsd Group (Cah)mentioning

confidence: 99%

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

Mouriquand

Gorduza

Gay

et al. 2016

Journal of Pediatric Urology

176

101

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Ten years after the consensus meeting on disorders of sex development (DSD), genital surgery continues to raise questions and criticisms concerning its indications, its technical aspects, timing and evaluation. This standpoint details each distinct situation and its possible management in 5 main groups of DSD patients with atypical genitalia: the 46,XX DSD group (congenital adrenal hyperplasia); the heterogeneous 46,XY DSD group (gonadal dysgenesis, disorders of steroidogenesis, target tissues impairments …); gonosomic mosaicisms (45,X/46,XY patients); ovo-testicular DSD; and "non-hormonal/non chromosomal" DSD. Questions are summarized for each DSD group with the support of literature and the feed-back of several world experts. Given the complexity and heterogeneity of presentation there is no consensus regarding the indications, the timing, the procedure nor the evaluation of outcome of DSD surgery. There are, however, some issues on which most experts would agree: 1) The need for identifying centres of expertise with a multidisciplinary approach; 2) A conservative management of the gonads in complete androgen insensitivity syndrome at least until puberty although some studies expressed concerns about the heightened tumour risk in this group; 3) To avoid vaginal dilatation in children after surgical reconstruction; 4) To keep asymptomatic mullerian remnants during childhood; 5) To remove confirmed streak gonads when Y material is present; 6) It is likely that 46,XY cloacal exstrophy, aphallia and severe micropenis would do best raised as male although this is based on limited outcome data. There is general acknowledgement among experts that timing, the choice of the individual and irreversibility of surgical procedures are sources of concerns. There is, however, little evidence provided regarding the impact of non-treated DSD during childhood for the individual development, the parents, society and the risk of stigmatization. The low level of evidence should lead to design collaborative prospective studies involving all parties and using consensual protocols of evaluation.

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Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre

Abstract: Our large cohort of adult patients with DSD, which was followed by a multidisciplinary team in a single tertiary centre, had good QoL in adulthood; in addition, late treatment compromised the QoL of patients with DSD, whereas sexual performance has little influence on QoL.

Cited by 25 publications

References 30 publications

Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE)

Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE)

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

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