Parental Reports of Stigma Associated with Child’s Disorder of Sex Development

Abstract

Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD-associated stigma is purported to threaten positive psychosocial adaptation. Parental perceptions of DSD-related stigma were assessed in 154 parents of 107 children (newborn–17 years) questionnaire comprising two scales, child-focused and parent-focused, and three subscales, perceived stigmatization, future worries, and feelings about the child's condition. Medical chart excerpts identified diagnoses and clinical management details. Stigma scale scores were generally low. Parents of children with DSD reported less stigma than parents of children with epilepsy; however, a notable proportion rated individual items in the moderate to high range. Stigma was unrelated to child's age or the number of DSD-related surgeries. Child-focused stigma scores exceeded parent-focused stigma and mothers reported more stigma than fathers, with a moderate level of agreement. Within 46,XY DSD, reported stigma was higher for children reared as girls. In conclusion, in this first quantitative study of ongoing experiences, DSD-related stigma in childhood and adolescence, while limited in the aggregate, is reported at moderate to high levels in specific areas. Because stigma threatens positive psychosocial adaptation, systematic screening for these concerns should be considered and, when reported, targeted for psychoeducational counseling.

Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool

“…In particular, the 3-item Caregiver Stigma Concern subscale that we added to modify the PAT specifically for the DSD population did not demonstrate adequate internal reliability. Caregivers highlight significant concerns at the time of diagnosis related to stigma, and indicate that they make treatment decisions related to these concerns [38, 52]. Accordingly, further work on identifying different or additional items that, as a group, more reliably screen for stigma is indicated.…”

“…Accordingly, further work on identifying different or additional items that, as a group, more reliably screen for stigma is indicated. These items could be identified by looking at other measures of stigma in this population [38]. However, one strength of the PAT is its brevity, so any additional items should be carefully selected and tested to avoid unnecessarily lengthening the measure.…”

“…Of note, as has been done in other studies of the PAT, the PAT-DSD was modified slightly from the original PAT by substituting DSD-specific language in place of references to “cancer,” and the demographic section was expanded slightly. In addition, because stigma is a notable concern for affected individuals with DSD and their families [38, 39], 3 items about stigma were added to create a Stigma subscale. These items were chosen from previous published research on a DSD stigma measure that incorporated stigma items from other questionnaires as well as the input of caregivers of children with DSD on their stigma concerns [38], and were as follows: “My child will be treated differently because of his/her condition,” “Having a urogenital condition attaches a stigma or label to my child,” “My child’s condition will put limits on his/her having a good life.” These items were not included in the PAT-DSD Total score computation, and were added at the end of the PAT-DSD, thereby minimizing influence on caregiver responding to previous items.…”

Psychosocial implications of disorders of sex development treatment for parents

“…Mothers report more child-focused stigma than Fathers, although a significant proportion of both parents report moderate to high levels of this. Predictors of increased child-focused stigma include delayed gender assignment, atypical genital appearance at birth (particularly in boys) and discordance between genetic sex and sex of rearing [14]. …”

Variation in the clinical and genetic evaluation of undervirilized boys with bifid scrotum and hypospadias

“…Fortunately, advances in surgical technique have provided functional improvement for patients, if referred to an experienced surgical team [1,2]. In many cases, however, the underlying etiology of the developmental abnormality is unknown; this lack of a diagnosis may lead to significant distress for patients and their families [3,4]. Androgen receptor mutations provide a clear example of the impact of having a genetic diagnosis.…”