Gender dysphoria in adolescents with Ehlers–Danlos syndrome

Abstract

Objectives: Ehlers–Danlos Syndrome represents a family of heritable connective tissue disorders that include joint hypermobility, tissue fragility, and skin hyperextensibility. Ehlers–Danlos Syndrome presents with clinical sequela across multiple body systems that require multidisciplinary care. Little is known about adolescents with Ehlers–Danlos Syndrome who are transgender and gender diverse. To date, there have been no reports of transgender and gender diverse youth in pediatric patients with Ehlers–Danlos Syndrome. The objective of this study was to characterize transgender and gender diverse adolescents with Ehlers–Danlos Syndrome seen in a pediatric multidisciplinary specialty clinic. Methods: A retrospective chart review was performed and it was found that 28 patients were seen in the Ehlers–Danlos Syndrome multidisciplinary clinic were reported being transgender and gender diverse. Chart review included analysis of all documents in the electronic medical record, including demographic data, gender identity, chosen pronouns, specialty care previously received for Ehlers–Danlos Syndrome, symptoms and conditions related to it, and medications. Results: Of the 166 total adolescents seen in the pediatric multidisciplinary Ehlers–Danlos Syndrome clinic during the study period, 17% reported gender dysphoria. The average age at Ehlers–Danlos Syndrome diagnosis was 13.5 years (range 8–17 years). Most (61%) reported their gender identity as transgender, followed by nonbinary (14%). Most had preferred male (he/him) pronouns (47%), followed by nonbinary (they/them) pronouns (39%). The vast majority reported fatigue (75%), musculoskeletal issues (96%), psychiatric issues (86%), cardiac issues (71%), gastrointestinal issues (68%), and neurologic issues (79%). Conclusions: Here we report the first cohort of transgender and gender diverse adolescents in the Ehlers–Danlos syndrome population and show an association between the two. This report increases awareness for providers who care for patients with Ehlers–Danlos Syndrome. As care for those with Ehlers–Danlos Syndrome is often complex and multidisciplinary, providers should adopt practices of gender-affirming medical care that contribute to improved care and outcomes.

Correlation between benign joint hypermobility syndrome and headache in children and adolescents

“…Primary headache disorders are the most common type of headache disorders and do not have an underlying cause but are independent conditions themselves. Studies have shown that primary headache disorders, such as migraine and tension-type headaches, are highly prevalent in the pediatric population [ 21 , 22 ]. The prevalence rates are vary depending on dissimilar cultural, genetic, environmental factors, ethnological, cultural and geographical components or methodological dissimilarities or applied diagnostic criteria.…”

Variability of joint hypermobility in children: a meta-analytic approach to set cut-off scores

“…Future studies should ensure, at a minimum, Beighton score data is available based on children's age, ethnicity and pubertal status. There is also emerging evidence of gender dysphoria in the paediatric hypermobility cohort; future research should consider including reporting both sex assigned at birth and gender identity [50]. One element of bias introduced into the review was limited reporting of assessor training.…”