Division of Endocrinology, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA.
Division of Urology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Urology and Center for Healthcare Studies, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
J Pediatr Urol. 2018 Apr;14(2):155.e1-155.e6. doi: 10.1016/j.jpurol.2017.11.011. Epub 2017 Dec 21.
Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation.
The purpose of this study was to examine TART screening and fertility counseling practices among boys with CAH.
An IRB-approved retrospective chart review was conducted of all males with ICD-9/10 codes for CAH (2007-2016) at a large pediatric academic center to examine: age and indication for diagnosis; age at first and last documented pediatric endocrinology and urology visit; history of ultrasound examinations; and documentation of fertility counseling.
Forty-six patients were included, of whom 38 had 21-hydroxylase deficiency. Median age at diagnosis was 2 weeks (range 7 days-10 years). Median age at the most recent pediatric endocrinology clinic visit was 14 years (range 2-42 years). Twenty-nine patients were >11 years old (63% of the sample) at the time of the study and 14 of these were >18 years old (30% of the sample). Seven patients (15%) had a screening ultrasound at some point in their care, of whom three had TARTs. Fertility was mentioned in the records of six subjects (13% of the sample). Six of the subjects (13%) had any mention of fertility in their records. None of the patients had biochemical testing or semen analysis to assess gonadal function, and none were offered fertility preservation. Only one patient was seen by a pediatric urologist.
Despite the limitations of a single-center retrospective design, our findings highlight that TART screening and fertility counseling remain underutilized in boys with CAH. There is a need for increased awareness and development of practice guidelines within pediatric urology and endocrinology to address this common and understudied problem.
In addition to a screening ultrasound in puberty and consideration of semen analysis after puberty, these boys may benefit from seeing a pediatric urologist independently or in an interdisciplinary program. Boys with CAH and their families should be educated about infertility risk and potential interventions, with the goal of improving reproductive outcomes in this population.
先天性肾上腺皮质增生症（CAH）男性的生育能力降低是一个常见的潜在问题，近一半的患者存在精子生成受损。CAH 患者发生少精症/无精症的主要原因是睾丸肾上腺残余肿瘤（TART）。研究表明，应在儿童期开始对 TART 进行超声筛查，但目前尚不清楚 CAH 患儿是否常规进行 TART 筛查和/或接受有关生育力风险和潜在干预措施（如生育力检测和/或保存）的咨询。
本研究旨在探讨 CAH 男性的 TART 筛查和生育咨询实践。
对一家大型儿科学术中心所有 ICD-9/10 编码为 CAH 的男性（2007-2016 年）进行了经机构审查委员会批准的回顾性图表审查，以检查：诊断的年龄和指征；首次和最后一次儿科内分泌和泌尿科就诊的年龄；超声检查史；以及生育咨询的记录。
共纳入 46 例患者，其中 38 例为 21-羟化酶缺乏症。中位确诊年龄为 2 周（范围 7 天-10 岁）。最近一次儿科内分泌科就诊的中位年龄为 14 岁（范围 2-42 岁）。29 例患者（样本的 63%）在研究时年龄>11 岁，其中 14 例患者年龄>18 岁（样本的 30%）。7 例患者（15%）在治疗过程中的某个时间点进行了筛查性超声检查，其中 3 例存在 TART。6 例（样本的 13%）患者的记录中提到了生育力。6 例（13%）患者的记录中提到了生育力的任何问题。没有患者进行过评估性腺功能的生化检测或精液分析，也没有患者接受生育力保存。只有 1 例患者接受了儿科泌尿科医生的检查。
尽管存在单中心回顾性设计的局限性，但我们的研究结果表明，CAH 患儿的 TART 筛查和生育咨询仍未得到充分利用。儿科泌尿科和内分泌科需要提高认识并制定实践指南，以解决这一常见但研究不足的问题。
除了青春期的筛查性超声检查以及青春期后考虑精液分析外，这些男孩可能还需要单独或在跨学科项目中接受儿科泌尿科医生的检查。应向 CAH 患儿及其家属进行有关生育力风险和潜在干预措施的教育，以改善该人群的生殖结局。
