Urogenital Abnormalities in Adenosine Deaminase Deficiency

J Clin Immunol 2020 May; 40(4):610-618. doi: 10.1007/s10875-020-00777-8. Epub 2020 Apr 19.

PMID: 32307643

Roberta Pajno, Lucia Pacillo, Salvatore Recupero

Highlights: According to our findings, it is essential to include urogenital evaluation in ADA-SCID patients to detect any abnormalities, initiate early treatment, and prevent long-term complications.

Abstract

Background: Survival rates in ADA-SCID patients are improving, exposing new facets of the disease. Despite an increase in papers describing the systemic signs of adenosine deaminase deficiency, there are presently no studies in the literature examining genital development and pubertal progress in these individuals.

Methods: We gathered data on the urogenital system and pubertal development of 86 ADA-SCID patients who were monitored from 2000 to 2017 at the Great Ormond Street Hospital in the United Kingdom and five locations in Italy. We kept track of patients' clinical histories and visits, and performed routine blood tests and ultrasound scans as part of their follow-up.

Results and discussion: Congenital and acquired undescended testes were found to be more common in our sample than in healthy children (congenital, 22% in our sample, 0.5-4% described in healthy children; acquired, 16% in our sample, 1-3% in healthy children), necessitating orchidopexy in the majority of cases. Females showed no signs of urogenital anomalies. The majority of female and male patients experienced spontaneous pubertal development, with a few cases of precocious or delayed puberty; no patient had elevated FSH levels. Pubertal development and gonadic function were not altered by ADA-SCID or the treatments used (PEG-ADA, BMT, or GT).

Conclusion: In conclusion, our study found a significant frequency of cryptorchidism in a group of male ADA-SCID patients, suggesting that cryptorchidism is a systemic manifestation of ADA-SCID. Because urogenital and pubertal abnormalities might affect a patient's quality of life, we believe it is critical to include urogenital examination in ADA-SCID patients in order to detect any abnormalities, commence early therapy, and avoid long-term complications.

Keywords: ADA-SCID, cryptorchidism, pubertal development, puberty, undescended testis, urogenital abnormalities