Urogenital Abnormalities in Adenosine Deaminase Deficiency
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ORIGINAL ARTICLE
Urogenital Abnormalities in Adenosine Deaminase Deficiency Roberta Pajno 1 & Lucia Pacillo 2,3,4 & Salvatore Recupero 5,6 & Maria P. Cicalese 5,6 & Francesca Ferrua 5,6 & Federica Barzaghi 5,6 & Silvia Ricci 7 & Antonio Marzollo 8 & Silvia Pecorelli 9 & Chiara Azzari 7 & Andrea Finocchi 3,4 & Caterina Cancrini 3,4 & Gigliola Di Matteo 3,4 & Gianni Russo 1 & Massimo Alfano 10 & Arianna Lesma 11 & Andrea Salonia 10,12 & Stuart Adams 13 & Claire Booth 14 & Alessandro Aiuti 5,6,12 Received: 30 November 2019 / Accepted: 30 March 2020 # The Author(s) 2020
Abstract 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 Roberta Pajno, Lucia Pacillo, Claire Booth and Alessandro Aiuti contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00777-8) contains supplementary material, which is available to authorized users. * Alessandro Aiuti [email protected]
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Division of Pediatric Immunology, Department of Health Sciences, University of Florence and Meyer Children’s Hospital, Florence, Italy
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Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132 Milan, Italy
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Department of Pediatrics, “Pietro Barilla” Children Hospital, University of Parma, via Gramsci, 14 Parma, Italy
Pediatric Hematology-Oncology Unit, Department of Women’s and Children’s Healt
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