ESPE Abstracts (2023) 97 FC12.2

ESPE2023 Free Communications Thyroid (6 abstracts)

Thyroid function analysis in 48 patients affected by severe combined immunodeficiency caused by adenosine deaminase deficiency

Giulia Tarantola 1,2 , Roberta Pajno 1 , Gaia Vincenzi 1 , Federica Barzaghi 3,4 , Maddalena Migliavacca 3,4 , Marco Abbate 1,2 , Elena Sophia Fratini 4,2 , Ilenia Teresa Petralia 1,4,2 , Alessia Ippolito 1,4,2 , Maria Pia Cicalese 3,4 , Maria Cristina Vigone 1 , Graziano Barera 1,2 & Alessandro Aiuti 3,4,2

1Pediatric Department, IRCCS San Raffaele Hospital, Milan, Italy. 2Vita-Salute San Raffaele University, Milan, Italy. 3San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy. 4Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Hospital, Milan, Italy

Background: Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that primarily affects the immune system and lymphocyte development, causing a severe combined immunodeficiency (ADA-SCID). However, the accumulation of toxic metabolites occurs in other organs and systems. Since most ADA-SCID patients undergo definitive treatment with Gene Therapy (GT) or allogeneic haematopoietic stem cell transplantation (HSCT), preceded by conditioning (either myeloablative or not), endocrinological evaluation becomes fundamental. Currently, no studies in the literature have evaluated thyroid function before and after definitive treatment in ADA-SCID patients. Therefore, our study aims at describing these characteristics in our cohort of patients.

Materials and methods: We retrospectively analysed data of 48 patients who underwent GT (n=43) or HSCT (n=5) and performed follow-up from 1993 to 2022 in Our Centre; we considered TSH, fT4, fT3, and thyroid autoantibodies (anti-thyroglobulin, anti-thyroperoxidase and anti-TSH receptor). When performed, we also evaluated thyroid ultrasound and brain MRI.

Results: 24/48 patients had normal thyroid function, while 24/48 presented thyroid function tests’ alterations. We detected three main categories: subclinical hypothyroidism (5 patients, of whom 1 started treatment with levothyroxine - L-T4), autoimmune hypothyroidism (7 patients, of whom 5 requiring L-T4), and reduced fT4 levels with inappropriately normal TSH values (12 patients, of whom 5 required treatment). In the last group, 3 patients had a small pituitary gland at brain MRI, 1 had both small pituitary gland and thyroid gland at ultrasound and 1 was taking antitubercular medications. The alterations in thyroid function occurred before definitive treatment in 9 patients (in 4 of them they resolved after definitive treatment, in 4 patients they were persisting after treatment and in 1 patient they were not assessed), while in 15 patients they occurred after treatment, and 4 were autoimmune thyroiditis.

Conclusions: We detected thyroid function alterations in 50% of our patients, 46% of whom required substitutive treatment with L-thyroxine. This underlines the importance of screening thyroid function (TSH and free hormones), autoantibodies, and ultrasound in ADA-SCID patients at diagnosis and of monitoring it during follow-up. This is even more important considering that ADA-SCID is usually diagnosed in the first months of life, when adequate thyroid function is necessary for proper neurological development. Finally, we suggest periodically reassessing thyroid function, especially in patients who started L-thyroxine: it would be helpful, as soon as complete immune reconstitution after GT or HSCT has occurred, to try to stop L-T4 in order to document whether thyroid function has restored.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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