The birth of a child with a Disorder of Sex Development (DSD or """"""""intersexuality"""""""") can create a crisis for the newborn's family and healthcare professionals. Decisions about gender assignment, genital surgeries, and strategies to minimize stigma often are made quickly and under pressure. Clinical management of patients with DSDs, based primarily on studies of biological influences on psychosexual development, has become controversial. Recent anecdotal reports of harm to patients and calls for immediate changes in the model of care appear to be influencing practice;however, there are no measurement tools to evaluate the effects of these changes on patients'(or families') quality of life. Health-related quality of life (HRQoL) measures are well-suited to address this problem because they address the effects of a condition and its treatment on subjectively-experienced physical, social, and emotional functioning of the individual and family. The objective of this study is to develop validated parent-proxy report (Quality of Life Disorders of Sex Development Questionnaire, QoL-DSDQ) and parent self-report (Quality of Life Disorders of Sex Development Questionnaire-Parent/Caregiver, QoL-DSDQ-P/C) HRQoL questionnaires that focus on issues specific to, and shared by young patients with DSDs and their families, which are not otherwise covered by generic HRQoL measures. This objective fits with the NIH Roadmap for Medical Research that calls for developing methods to improve clinical outcomes assessment through creating sensitive and well-validated HRQoL outcome measures. The goal of Study I is to develop a parent proxy-report of the child's (ages 2 to 6 years) HRQoL and a parent self-report measure of the impact of the child's (newborn to 6 years) condition on parent/caregiver quality of life. Provisional questionnaire items, developed in a pilot study, will be revised and refined through cognitive interviews with 75 parents of 45 affected children (newborn to 6 years with the full range of DSD) identified through four US medical centers. The goal of Study II is to establish the reliability and validity of the new instruments in a demographically and geographically diverse sample comprising 249 parents of 150 affected children (newborn to 6 years) recruited from 12 medical centers across the US. This study will yield the largest, most representative HRQoL dataset on children with DSDs and their parents. Future research will extend this methodology to older patients with DSDs.

Public Health Relevance

Development of the Quality of Life-Disorders of Sex Development Questionnaire (QoL-DSDQ;parent/caregiver proxy and self-report versions) will enable clinicians to: (1) identify specific areas of patient and family need;(2) measure the effects of medical and surgical interventions on patient/family functioning;(3) provide empirical evidence to guide clinical management;and (4) address gaps in understanding of the psychosocial and psychosexual development in patients with disorders of sex development (DSD). Development of the QoL- DSDQ will also inform theories of typical and atypical gender development among those born physically typical or with a DSD by establishing a better balance between biological factors (genetic and hormonal) and social- environmental experiences in early development which, together, shape the development of sex differences in human behavior.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Research Project (R01)
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Study Section
Psychosocial Development, Risk and Prevention Study Section (PDRP)
Program Officer
Freund, Lisa S
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University of Michigan Ann Arbor
Schools of Medicine
Ann Arbor
United States
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Alpern, Adrianne N; Gardner, Melissa; Kogan, Barry et al. (2017) Development of Health-Related Quality of Life Instruments for Young Children With Disorders of Sex Development (DSD) and Their Parents. J Pediatr Psychol 42:544-558
Rolston, Aimee M; Gardner, Melissa; Vilain, Eric et al. (2015) Parental Reports of Stigma Associated with Child's Disorder of Sex Development. Int J Endocrinol 2015:980121
Hanauer, David A; Gardner, Melissa; Sandberg, David E (2014) Unbiased identification of patients with disorders of sex development. PLoS One 9:e108702
Sandberg, David E; Gardner, Melissa; Cohen-Kettenis, Peggy T (2012) Psychological aspects of the treatment of patients with disorders of sex development. Semin Reprod Med 30:443-52
Sandberg, David E (2012) Management of disorders of sex development: editorial commentary. Pediatr Clin North Am 59:871-80
Kogan, Barry A; Gardner, Melissa; Alpern, Adrianne N et al. (2012) Challenges of disorders of sex development: diverse perceptions across stakeholders. Horm Res Paediatr 78:40-6
Sandberg, David E; Gardner, Melissa D; Kogan, Barry A et al. (2011) Assessing health-related quality of life in disorders of sex development: phase I - item generation. Adv Exp Med Biol 707:143-6