先天性肾上腺皮质增生症中睾丸肾上腺残余肿瘤的患者和家长观点。
Patient and Parent Perspectives on Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia.
机构信息
Division of Pediatric Endocrinology, Indiana University School of Medicine, Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA.
The Saban Research Institute, Keck School of Medicine of University of Southern California, Children's Hospital Los Angeles, Center for Endocrinology, Diabetes, Metabolism, Los Angeles, California, USA.
出版信息
Horm Res Paediatr. 2023;96(5):518-522. doi: 10.1159/000529211. Epub 2023 Jan 18.
BACKGROUND
Testicular adrenal rest tumors (TARTs) increase the risk of infertility in males with classic congenital adrenal hyperplasia (CAH). There is no consensus regarding at what age screening testicular ultrasounds should begin and how often they should be repeated. Furthermore, it is unknown whether patients and parents are aware of the significance of TARTs.
OBJECTIVE
The objective of the study was to investigate awareness, concern, and screening rates for TARTs in males with classic CAH.
METHODS
Males with CAH and parents completed an online questionnaire from 2019 to 2020. Responses to questions about TARTs were analyzed. Fisher's exact test was used to determine statistical significance.
RESULTS
Of 123 responders, 14 were males with CAH (range 16-54 years) and 109 were parents of males with CAH (son's age range infancy to 37 years). Of all responders, 74% were concerned about the possibility of TARTs, 48% had discussions about TARTs with their endocrinologist, and 42% were aware of possible infertility in males with CAH. There was no difference between responses provided by affected males and parents for these topics (p ≥ 0.08). Among male responders with CAH, 93% had at least one testicular ultrasound, and 77% had undergone more than one. Among parent responders, 30% of their sons had at least one testicular ultrasound, and 61% had more than one. The frequency, total number, and age when the first testicular ultrasound was obtained were inconsistent in both groups. Fifty percent of male responders with CAH and 11% of sons were referred to a urologist for evaluation.
CONCLUSIONS
Although most responders were concerned about TARTs, less than half recalled discussing this issue with their endocrinologist, and less than half were aware of the possibility of infertility. Although TARTs are most often treated medically, several responders were referred to a urologist. Standardized patient education and consensus guidelines are needed for the surveillance and management of TARTs in males with classic CAH.
背景
睾丸肾上腺残余肿瘤（TART）会增加经典先天性肾上腺皮质增生症（CAH）男性不育的风险。目前对于何时开始睾丸超声筛查以及应多久重复筛查尚无共识。此外，尚不清楚患者及其家属是否了解 TART 的重要性。
目的
本研究旨在调查经典 CAH 男性对 TART 的认知、关注和筛查率。
方法
2019 年至 2020 年，CAH 男性及其家长完成了在线问卷调查。分析了有关 TART 的问题的回答。采用 Fisher 确切检验确定统计学意义。
结果
在 123 名应答者中，有 14 名是 CAH 男性（年龄范围 16-54 岁），109 名是 CAH 男性的家长（儿子的年龄范围为婴儿至 37 岁）。在所有应答者中，74%的人担心可能存在 TART，48%的人与内分泌医生讨论过 TART，42%的人了解 CAH 男性可能存在不育。受影响的男性和家长在这些问题上的回答没有差异（p≥0.08）。在有 CAH 的男性应答者中，93%至少进行了一次睾丸超声检查，77%进行了不止一次检查。在家长应答者中，其儿子中有 30%至少进行了一次睾丸超声检查，61%进行了不止一次检查。两组的超声检查频率、总数和首次获得睾丸超声检查的年龄不一致。有 CAH 的男性应答者中有 50%和儿子中有 11%被转介给泌尿科医生进行评估。
结论
尽管大多数应答者都担心 TART，但不到一半的人记得与内分泌医生讨论过这个问题，不到一半的人了解不育的可能性。尽管 TART 通常是通过药物治疗，但有几位应答者被转介给泌尿科医生。需要为经典 CAH 男性的 TART 监测和管理制定标准化的患者教育和共识指南。
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