BACKGROUND Improved survival in ADA-SCID patients is revealing new aspects of the systemic disorder. Although increasing numbers of reports describe the systemic manifestations of adenosine deaminase deficiency, currently there are no studies in the literature evaluating genital development and pubertal progress in these patients. METHODS We collected retrospective data on urogenital system and pubertal development of 86 ADA-SCID patients followed in the period 2000-2017 at the Great Ormond Street Hospital (UK) and 5 centers in Italy. In particular, we recorded clinical history and visits, and routine blood tests and ultrasound scans were performed as part of patients' follow-up. RESULTS AND DISCUSSION We found a higher frequency of congenital and acquired undescended testes compared with healthy children (congenital, 22% in our sample, 0.5-4% described in healthy children; acquired, 16% in our sample, 1-3% in healthy children), mostly requiring orchidopexy. No urogenital abnormalities were noted in females. Spontaneous pubertal development occurred in the majority of female and male patients with a few cases of precocious or delayed puberty; no patient presented high FSH values. Neither ADA-SCID nor treatment performed (PEG-ADA, BMT, or GT) affected pubertal development or gonadic function. CONCLUSION In summary, this report describes a high prevalence of cryptorchidism in a cohort of male ADA-SCID patients which could represent an additional systemic manifestation of ADA-SCID. Considering the impact urogenital and pubertal abnormalities can have on patients' quality of life, we feel it is essential to include urogenital evaluation in ADA-SCID patients to detect any abnormalities, initiate early treatment, and prevent long-term complications.

中文翻译：

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腺苷脱氨酶缺乏症的泌尿生殖系统异常。

背景 ADA-SCID 患者生存率的提高揭示了全身性疾病的新方面。尽管越来越多的报告描述了腺苷脱氨酶缺乏症的全身表现，但目前文献中没有评估这些患者的生殖器发育和青春期进展的研究。方法 我们收集了 2000-2017 年期间在英国大奥蒙德街医院和意大利 5 个中心随访的 86 名 ADA-SCID 患者的泌尿生殖系统和青春期发育的回顾性数据。特别是，我们记录了临床病史和就诊情况，并在患者随访中进行了常规血液检查和超声扫描。结果与讨论 我们发现与健康儿童相比，先天性和后天性未降睾丸的发生率更高（先天性，我们样本中的 22%，0. 5-4% 描述于健康儿童；获得性，在我们的样本中为 16%，在健康儿童中为 1-3%），主要需要睾丸固定术。女性未发现泌尿生殖系统异常。大多数女性和男性患者发生自发性青春期发育，少数出现性早熟或青春期延迟；没有患者出现高 FSH 值。ADA-SCID 和治疗（PEG-ADA、BMT 或 GT）均不影响青春期发育或性腺功能。结论 总之，本报告描述了男性 ADA-SCID 患者队列中隐睾症的高患病率，这可能代表 ADA-SCID 的额外全身表现。考虑到泌尿生殖系统和青春期异常对患者生活质量的影响，