Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.
University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.
Endocrine. 2020 Oct;70(1):170-177. doi: 10.1007/s12020-020-02409-y. Epub 2020 Jul 8.
We aim to report outcomes and safety with hormonal suppression to facilitate gonadal preservation in a select group of patients with 46,XY differences in sex development (DSD) who are raised and identify as female yet have diagnoses with potential for androgenization at puberty.
We performed a retrospective review of the past 10 years of DSD patients treated by a multidisciplinary program. Inclusion criteria were 46,XY DSD, female sex of rearing, risk of androgenization at puberty, and plan for hormonal suppression at puberty. Patients on hormonal suppression had at least 6 months of follow-up from initiation. We excluded those with complete gonadal dysgenesis or complete androgen insensitivity.
Four patients met inclusion criteria. Initial evaluation by DSD team was at a mean age of 6.6 years (3 weeks-16 years). All patients were evaluated in a coordinated multidisciplinary clinic. The diagnoses are listed in Table 1. Mean follow-up was 5.7 years (1.2-10.9 years). One patient presented as an infant, and is being monitored until Tanner stage 2 and/or serum hormonal evidence to initiate hormonal suppression. Three patients have been receiving hormonal suppression for 1.4 years (1.1-1.9 years) without side effects or complication. Three patients were initiated with estrogen replacement to promote desired breast development. At last follow-up, all patients had retained their gonads, all have female gender identity with no reported gender dysphoria, and no progression of androgenization.
In our initial experience, gonadal preservation with hormonal suppression is a tool in multidisciplinary management of select DSD patients with female gender identity with conditions associated with androgenization at puberty. Patients' growth, bone health, and overall psychosocial well-being will need to be monitored closely.
我们旨在报告在一组选择的 46,XY 性别发育差异（DSD）患者中的结果和安全性，这些患者被抚养和认同为女性，但具有青春期雄激素化的潜在诊断。
我们对过去 10 年接受多学科治疗的 DSD 患者进行了回顾性研究。纳入标准为 46,XY DSD、女性抚养性别、青春期雄激素化风险和青春期激素抑制计划。接受激素抑制的患者至少有 6 个月的随访。我们排除了那些完全性腺发育不良或完全雄激素不敏感的患者。
有 4 名患者符合纳入标准。DSD 团队的初始评估平均年龄为 6.6 岁（3 周-16 岁）。所有患者均在协调的多学科诊所接受评估。诊断列于表 1。平均随访时间为 5.7 年（1.2-10.9 年）。一名患者在婴儿期就诊，正在接受监测，直到 Tanner 分期 2 期和/或血清激素出现证据，以开始激素抑制。有 3 名患者已接受激素抑制治疗 1.4 年（1.1-1.9 年），无副作用或并发症。有 3 名患者开始接受雌激素替代治疗以促进理想的乳房发育。在最后一次随访时，所有患者均保留了性腺，所有患者均具有女性性别认同，无报告的性别焦虑，且雄激素化无进展。
在我们的初步经验中，激素抑制的性腺保存是对具有青春期雄激素化相关条件的具有女性性别认同的选择 DSD 患者进行多学科管理的一种工具。需要密切监测患者的生长、骨骼健康和整体心理健康。
