TY - JOUR
T1 - Urogenital Abnormalities in Adenosine Deaminase Deficiency
AU - Pajno, Roberta
AU - Pacillo, Lucia
AU - Recupero, Salvatore
AU - Cicalese, Maria P.
AU - Ferrua, Francesca
AU - Barzaghi, Federica
AU - Ricci, Silvia
AU - Marzollo, Antonio
AU - Pecorelli, Silvia
AU - Azzari, Chiara
AU - Finocchi, Andrea
AU - Cancrini, Caterina
AU - Di Matteo, Gigliola
AU - Russo, Gianni
AU - Alfano, Massimo
AU - Lesma, Arianna
AU - Salonia, Andrea
AU - Adams, Stuart
AU - Booth, Claire
AU - Aiuti, Alessandro
N1 - Funding Information:
Research at Great Ormond Street Hospital is supported by the NIHR GOSH Biomedical Research Centre. Funded by Fondazione Telethon (to AA); Ministero della Salute, Ricerca Finalizzata NET-2011-02350069 (to AA, CC, CA); Grant Ricerca Corrente Childrens’ Hospital Bambino Gesù, Rome, Italy 201802P004272.
Publisher Copyright:
© 2020, The Author(s).
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/5/1
Y1 - 2020/5/1
N2 - 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.
AB - 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.
KW - ADA-SCID
KW - cryptorchidism
KW - pubertal development
KW - puberty
KW - undescended testis
KW - urogenital abnormalities
UR - http://www.scopus.com/inward/record.url?scp=85084091048&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85084091048&partnerID=8YFLogxK
U2 - 10.1007/s10875-020-00777-8
DO - 10.1007/s10875-020-00777-8
M3 - Article
C2 - 32307643
AN - SCOPUS:85084091048
VL - 40
SP - 610
EP - 618
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
SN - 0271-9142
IS - 4
ER -