Patient-reported outcome measures used for differences of sex development: Readability analysis and content mapping

Differences of sex development (DSD) are a spectrum of congenital conditions characterized by discordant chromosomal, gonadal, or anatomic sex. Clinical presentations and experiences vary widely, yet affected individuals often face shared challenges. Little is known about how individuals with DSD assess their own outcomes.

This systematic review aimed to evaluate the range, quality, and readability of patient-reported outcome measures (PROMs) used in individuals with DSD.

A comprehensive search was conducted across electronic databases of Ovid MEDLINE, Embase, PsycINFO, CINAHL, and Cochrane from inception to September 15, 2023. Original DSD studies published in English and reporting on patient-completed PROMs were included. For PROMs used by three or more studies, readability was assessed using several established readability metrics, PROM content was mapped against a well-established health-related quality of life (HRQL) framework. Descriptive statistics were calculated.

From the 163 included studies, 24 PROMs were included in readability and content analysis. Participant ages ranged from 7 to 50 years. The most frequently used PROMs included the Female Sexual Function Index (n = 19), Pediatric Quality of Life Inventory (n = 15), and Body Image Scale for Evaluating Transsexuals (n = 14). Readability ranged from a reading grade level of 1.5-5.2 across pediatric PROMs, 2.2-6.0 for adolescent/adults, and 3.5-9.5 for adults. Half (n = 12, 50.0%) failed to meet grade level readability recommendations. Individual PROM items (n = 580) were mapped to seven domains. Most mapped to psychological wellbeing (n = 288, 49.7%), sexual wellbeing (n = 105, 18.1%), and social wellbeing (n = 54, 9.3%). Multiple PROMs contained outdated terminology and 23.8% (n = 138) were double-barreled.

Limitations were that only English language papers were included, and full content mapping and readability analysis was limited to PROMS published in 3 or more studies.

This study met the intended aims. Many PROMs commonly used in DSD literature failed to meet readability recommendations. Substantial heterogeneity was noted in PROM content, and no single PROM was found to be comprehensive. A validated DSD-specific PROM is urgently needed.