Abstract
BackgroundImproved 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.MethodsWe 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 DiscussionWe 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.ConclusionIn 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.
Highlights
Severe combined immunodeficiency due to adenosine deaminase deficiency is a rare autosomal recessive disease (ADASCID, OMIM # 102,700) caused by mutations in the gene encoding the enzyme ADA type 1, resulting in impairment of the purine salvage pathway [1,2,3]
We describe data collected retrospectively on the urogenital system and pubertal development of 86 ADASCID patients followed in the period 2000–2017: 51 males and 35 females with an age range from 4 months to 30 years were included in this analysis (Table 1)
Among other urogenital abnormalities seen, 3/51 patients presented with inguinal hernia requiring surgical intervention, 6/51 presented micropenis of whom 4 had associated cryptorchidism, and one subject had posterior urethral valves
Summary
Severe combined immunodeficiency due to adenosine deaminase deficiency is a rare autosomal recessive disease (ADASCID, OMIM # 102,700) caused by mutations in the gene encoding the enzyme ADA type 1, resulting in impairment of the purine salvage pathway [1,2,3]. This defect in purine metabolism primarily affects lymphocyte development and function resulting in varying degrees of immune deficiency [4]. 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
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