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Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Authors
  • Pajno, Roberta1
  • Pacillo, Lucia2, 3, 4
  • Recupero, Salvatore5, 6
  • Cicalese, Maria P5, 6
  • Ferrua, Francesca5, 6
  • Barzaghi, Federica5, 6
  • Ricci, Silvia7
  • Marzollo, Antonio8
  • Pecorelli, Silvia9
  • Azzari, Chiara7
  • Finocchi, Andrea3, 4
  • Cancrini, Caterina3, 4
  • Di Matteo, Gigliola3, 4
  • Russo, Gianni1
  • Alfano, Massimo10
  • Lesma, Arianna11
  • Salonia, Andrea10, 12
  • Adams, Stuart13
  • Booth, Claire14
  • Aiuti, Alessandro15, 16, 17
  • 1 Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy. , (Italy)
  • 2 Department of Pediatrics, "Pietro Barilla" Children Hospital, University of Parma, via Gramsci, 14, Parma, Italy. , (Italy)
  • 3 Unit of Immune and Infectious Diseases, Scientific Institute for Research and Healthcare (IRCCS) Childrens' Hospital Bambino Gesù, University Department of Pediatrics (DPUO), Rome, Italy. , (Italy)
  • 4 Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy. , (Italy)
  • 5 Pediatric Immunohematology and Stem Cell Program, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy. , (Italy)
  • 6 San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy. , (Italy)
  • 7 Division of Pediatric Immunology, Department of Health Sciences, University of Florence and Meyer Children's Hospital, Florence, Italy. , (Italy)
  • 8 Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy. , (Italy)
  • 9 Department of Pediatric Surgery, Ospedale dei Bambini - Spedali Civili, Brescia, Piazzale Spedali Civili 1, 25123, Brescia, Italy. , (Italy)
  • 10 Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy. , (Italy)
  • 11 Unit of Pediatric Surgery, Department of Urology, IRCCS Ospedale San Raffaele, Milan, Italy. , (Italy)
  • 12 Università Vita-Salute San Raffaele, Milan, Italy. , (Italy)
  • 13 SIHMDS-Haematology, Great Ormond Street Hospital for Children, London, UK.
  • 14 Department of Paediatric Immunology, Great Ormond Street Hospital, London, UK.
  • 15 Pediatric Immunohematology and Stem Cell Program, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy. [email protected] , (Italy)
  • 16 San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy. [email protected] , (Italy)
  • 17 Università Vita-Salute San Raffaele, Milan, Italy. [email protected] , (Italy)
Type
Published Article
Journal
Journal of Clinical Immunology
Publisher
Springer-Verlag
Publication Date
Apr 19, 2020
Identifiers
DOI: 10.1007/s10875-020-00777-8
PMID: 32307643
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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. 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. 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. 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.

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