Gender-Diverse Youth with Turner Syndrome: Special Management Considerations

• Published in: JCEM case reports 2024-05, Vol.2 (5), p.luae076
• Main Authors: Eitel, Kelsey B, Zenno, Anna, Di Blasi, Carolina, Fechner, Patricia Y, Hodax, Juanita K
• Format: Article
• Language: English
• ISSN: 2755-1520; 2755-1520
• DOI: 10.1210/jcemcr/luae076

Turner syndrome (TS) is a sex chromosome abnormality characterized by short stature and primary hypogonadism with increased risk for cardiovascular disease, osteopenia, metabolic syndrome, diabetes mellitus, abnormal liver enzymes, and impairment of nonverbal learning skills. Gender-diverse youth include youth who have a gender identity that is different from their sex assigned at birth. They have an increased risk of suicidality, which is decreased in those who receive gender-affirming care. There have been no prior reports on the association or management of gender-diverse youth with TS. We describe 3 cases of gender-diverse youth with TS that highlight the importance of discussing gender identity in patients with hypogonadism in need of sex hormone replacement. Goals of care should be discussed to determine whether estrogen or testosterone replacement aligns best with gender identity. If a patient chooses to start testosterone, special considerations of risks such as erythrocytosis, osteopenia, and cardiovascular disease should be discussed in relation to their TS.