Urogenital Abnormalities in Adenosine Deaminase Deficiency.

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

SUBMITTER: Pajno R 

PROVIDER: S-EPMC7253380 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature