Eitel Kelsey B, Zenno Anna, Di Blasi Carolina, Fechner Patricia Y, Hodax Juanita K
Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
Department of Internal Medicine, University of Washington, Seattle, WA 98105, USA.
JCEM Case Rep. 2024 May 3;2(5):luae076. doi: 10.1210/jcemcr/luae076. eCollection 2024 May.
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.
特纳综合征(TS)是一种性染色体异常疾病,其特征为身材矮小和原发性性腺功能减退,患心血管疾病、骨质减少、代谢综合征、糖尿病、肝酶异常及非语言学习技能受损的风险增加。性别多样化的青少年包括那些性别认同与出生时被指定的性别不同的青少年。他们有更高的自杀风险,而接受性别肯定治疗的青少年自杀风险会降低。此前尚无关于性别多样化的青少年与特纳综合征之间关联或管理的报告。我们描述了3例性别多样化的特纳综合征青少年病例,强调了在需要性激素替代治疗的性腺功能减退患者中讨论性别认同的重要性。应讨论护理目标,以确定雌激素或睾酮替代治疗是否最符合性别认同。如果患者选择开始使用睾酮,应结合其特纳综合征讨论诸如红细胞增多症、骨质减少和心血管疾病等风险的特殊注意事项。