Sorouri Khorashad Behzad, Kaabi Oumaima, Gardner Melissa D, Getahun Darios, Goodman Michael, Lash Timothy L, Lee Peter A, McCracken Courtney, May Joshua, Muzik Maria, Vupputuri Suma, Yacoub Rami, Sandberg David E
Susan B. Meister Child Health and Evaluation Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Department of Psychiatry, University of Michigan, Ann Arbor, MI 48109, USA.
J Clin Endocrinol Metab. 2025 Jun 17;110(7):1906-1914. doi: 10.1210/clinem/dgae720.
Understanding mental health issues facing individuals with disorders/differences of sex development (DSD) is crucial for optimizing evidence-based practices in this population.
This work aimed to compare the prevalence of psychiatric diagnoses among patients diagnosed with complete androgen insensitivity syndrome (CAIS) or müllerian duct aplasia/agenesis (MA) to male and female reference groups.
A retrospective cohort study was conducted among 3 large integrated health systems. Participants included all individuals with confirmed CAIS or MA enrolled in 1 of 3 Kaiser Permanente health-care systems between January 1, 1988, and January 31, 2017. For each DSD patient, age-, race/ethnicity- and health system-matched male and female referents with typical sex development were randomly selected. Outcome measurements were mental health diagnoses and use of psychiatric medications.
The prevalence of anxiety and depressive disorders in the CAIS and MA cohorts was approximately twice as high as in male referents without DSD, but the corresponding differences relative to female referents were less evident. A subgroup of MA patients with uterine agenesis had a higher prevalence of bipolar disorder than either reference group, but these results were accompanied by wide CIs. Women with CAIS and MA more frequently filled psychiatric medications compared to male but not female referents.
On balance, these findings are reassuring, albeit requiring confirmation in other settings. Future studies using longitudinal designs and patient-reported outcomes are needed to evaluate changes in mental health status of CAIS and MA patients at different ages and different intervals following initial diagnosis.
了解患有性发育障碍/差异（DSD）的个体所面临的心理健康问题，对于优化该人群基于证据的治疗方法至关重要。
这项研究旨在比较被诊断为完全雄激素不敏感综合征（CAIS）或苗勒管发育不全/缺失（MA）的患者与男性和女性参照组之间精神疾病诊断的患病率。
在3个大型综合医疗系统中进行了一项回顾性队列研究。参与者包括1988年1月1日至2017年1月31日期间在凯撒医疗保健系统3个系统之一中确诊患有CAIS或MA的所有个体。对于每位DSD患者，随机选择年龄、种族/民族和医疗系统相匹配的具有典型性发育的男性和女性对照者。结果测量指标为心理健康诊断和精神科药物的使用情况。
CAIS和MA队列中焦虑症和抑郁症的患病率约为无DSD的男性对照者的两倍，但与女性对照者相比，相应差异不太明显。一组子宫发育不全的MA患者双相情感障碍的患病率高于任何一个参照组，但这些结果的置信区间较宽。与男性对照者相比，患有CAIS和MA的女性更频繁地使用精神科药物，但与女性对照者相比则不然。
总体而言，这些发现令人安心，尽管需要在其他环境中得到证实。需要未来采用纵向设计和患者报告结局的研究来评估CAIS和MA患者在初次诊断后的不同年龄和不同时间段心理健康状况的变化。
