先天性肾上腺增生症中的睾丸肾上腺休息瘤患者和家长观点。
Patient and parent perspectives on testicular adrenal rest tumors in congenital adrenal hyperplasia.
发表日期:2023 Jan 18
作者:
Todd D Nebesio, Mimi S Kim, Konrad M Szymanski, Paul J Kokorowski, Mitchell E Geffner, Erica A Eugster,
来源:
Hormone Research in Paediatrics
摘要:
睾丸肾上腺残留肿瘤(TART)会增加男性经典先天性肾上腺增生症(CAH)患者不孕的风险。目前尚无一致的共识,关于从何时开始筛查睾丸超声以及筛查频率。此外,目前还不清楚患者及其父母是否了解TART的重要性。为了调查CAH男性团体对TART的认识、关注和筛查率,从2019年至2020年,CAH患者及其父母参与了在线问卷调查。对所有关于TART的问题进行了数据分析,利用Fisher确切概率推断其统计学意义。在123名回答者中,14名为CAH患者(年龄界于16至54岁之间),而109名为CAH患者的家长(儿子年龄从婴儿至37岁不等)。在所有参与者中,74%的人担心TART的可能性,48%曾与其内分泌学家讨论过TART,而42%知道CAH男性可能不孕。在这些主题上,受影响男性和家长的回答没有差异(p> 0.08)。在CAH男性回答者中,93%进行过至少一次睾丸超声检查,77%接受了多次检查。在家长回答者中,30%的儿子至少进行过一次睾丸超声检查,61%进行了多次检查。这两组中的频率、总数和首次进行睾丸超声检查的年龄均不一致。50%的男性CAH受访者和11%的儿子被转诊给泌尿科医生评估。虽然大多数受访者对TART感到担忧,但不到一半的人回忆起曾与内分泌学家讨论过这个问题,且不到一半的人了解不孕的可能性。虽然TART通常被医学治疗,但有几个受访者被转诊至泌尿科医生。为经典CAH男性患者的监测和管理制定标准化的患者教育和共识指南是必要的。S. Karger AG,巴塞尔。
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.To investigate awareness, concern, and screening rates for TARTs in males with classic CAH.Males with CAH and parents completed an online questionnaire from 2019-2020. Responses to questions about TARTs were analyzed. Fisher's exact test was used to determine statistical significance.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 was inconsistent in both groups. Fifty percent of male responders with CAH and 11% of sons were referred to a urologist for evaluation.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.S. Karger AG, Basel.